0025142

Case	Control
234487	225707

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr15:48426484	rs1426654	SLC24A5	A>G	13164	14362	109.3	1.424e-25	0.88
chr6:170242949	rs9396958	-	T>C	7611	8503	89.43	3.177e-21	0.8604
chr2:26113913	rs78404020	-	A>G	6506	7311	82.55	1.029e-19	0.8557
chr6:170602429	rs17860704	DLL1	T>C	5498	6220	76.02	2.814e-18	0.8503
chr20:19214390	rs6136658	SLC24A3	G>A	6462	7213	74.79	5.23e-18	0.8615
chr24:14850341	rs2032598	USP9Y	T>C	1227	1585	74.44	6.248e-18	0.7199
chr15:48392165	rs1834640	-	A>G	15358	16266	72.91	1.357e-17	0.907
chr11:44843134	rs11038167	TSPAN18	A>C	4889	5560	72.5	1.674e-17	0.8457
chr6:39737813	rs458330	-	G>A	6778	7520	71.97	2.184e-17	0.8667
chr2:211717706	rs12995612	-	C>G	7854	8618	70.49	4.616e-17	0.8763
chr11:45923697	rs2280331	MAPK8IP1	A>G	8786	9565	69.46	7.794e-17	0.8832
chr17:44855578	rs67143796	WNT3	T>C	7705	8454	69.04	9.631e-17	0.8764
chr3:181586376	rs10937067	-	G>A	6414	7112	67.49	2.122e-16	0.8673
chr10:25785043	rs6482486	GPR158	G>C	7581	8309	67.03	2.678e-16	0.8772
chr1:236085940	rs12038310	-	C>T	7281	7995	65.98	4.562e-16	0.8759
chr4:174612666	rs2067518	-	A>G	7853	8571	64.63	9.056e-16	0.8811
chr10:45243171	rs10900107	-	T>C	11980	12765	64.32	1.06e-15	0.9019
chr7:5494487	rs72577283	FBXL18	T>C	6060	6715	62.97	2.104e-15	0.8681
chr2:44066247	Affx-20090007	ABCG8	G>C	33196	30097	62.63	2.488e-15	1.067
chr2:108088349	rs2377892	-	G>A	6665	7329	61.74	3.926e-15	0.8747
chr2:44066247	Affx-20090007	ABCG8	G>C	31809	28793	61.01	5.668e-15	1.068
chr2:44065090	Affx-20089987	ABCG5	G>A	30467	27641	54.25	1.766e-13	1.065
chr2:44073656	rs41360247	ABCG8	T>C	30550	27740	52.86	3.582e-13	1.064
chr2:56189500	rs74938797	-	T>C	174526	171012	44.88	2.093e-11	0.9715
chr6:34827085	rs9469913	UHRF1BP1	A>T	76453	71290	44.68	2.324e-11	1.039
chr10:21834536	rs7098100	MLLT10	G>A	160158	151210	43.29	4.709e-11	1.029
chr10:21824727	rs10828249	MLLT10	G>A	162460	153442	42.28	7.892e-11	1.029
chr6:34552797	rs2814944	-	G>A	69886	65123	41.91	9.543e-11	1.039
chr10:21889083	rs12356674	MLLT10	G>T	134999	127252	41.47	1.196e-10	1.03
chr10:21957229	rs2183271	MLLT10	T>C	167214	158050	40.51	1.96e-10	1.028
chr3:50153356	rs1138536	RBM5	C>T	205826	195208	40.19	2.306e-10	1.027
chr18:77563334	rs11665567	-	G>A	99301	93205	38.61	5.183e-10	1.032
chr3:50144951	rs1061474	RBM5	C>T	205730	195166	38.52	5.406e-10	1.026
chr3:50108792	rs3774734	RBM6	A>C	210071	199348	38.46	5.594e-10	1.026
chr3:49949071	rs868891	MON1A	A>G	202653	192205	38.31	6.023e-10	1.026
chr3:49899795	rs3796386	CAMKV	G>A	200869	190492	38.07	6.835e-10	1.026
chr6:126851160	rs1490384	-	T>C	235322	223716	36.68	1.393e-09	1.026
chr7:2028968	rs34809719	MAD1L1	G>T	85678	84685	36.51	1.519e-09	0.9681
chr2:56199556	rs55805406	-	G>A	180652	176637	35.89	2.092e-09	0.9747
chr6:34683635	rs6938239	-	A>G	66513	62094	35.35	2.76e-09	1.036

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr2:44066247	Affx-20090007	ABCG8	G>C	33196	17605	44.35	2.749e-11	1.066
chr11:45923697	rs2280331	MAPK8IP1	A>G	8786	5510	39.98	2.566e-10	0.8961
chr2:44065090	Affx-20089987	ABCG5	G>A	31980	17008	38.87	4.539e-10	1.063
chr2:44073656	rs41360247	ABCG8	T>C	32421	17257	38.33	5.959e-10	1.062
chr15:48426484	rs1426654	SLC24A5	A>G	13164	8068	36.91	1.236e-09	0.9166
chr6:90499139	rs4707571	MDN1	A>T	10563	6538	36.85	1.277e-09	0.9079
chr2:56189500	rs74938797	-	T>C	184887	106032	35.63	2.384e-09	0.9712
chr6:170242949	rs9396958	-	T>C	7611	4771	34.14	5.123e-09	0.897
chr4:174612666	rs2067518	-	A>G	7853	4898	31.97	1.568e-08	0.9014
chr2:56199556	rs55805406	-	G>A	191791	109804	30.98	2.612e-08	0.9734
chr6:90362783	rs4707557	MDN1	A>C	10150	6243	30.71	2.992e-08	0.9139
chr5:67954756	rs255258	-	T>C	11698	7141	29.56	5.435e-08	0.9207
chr1:156055185	rs12063564	LMNA	T>C	82182	47626	29.37	5.971e-08	0.9663
chr6:39786093	rs7763000	DAAM2	A>G	13309	8082	29.28	6.259e-08	0.9255
chr1:156066966	rs6700693	LMNA	T>C	93285	53941	29.21	6.502e-08	0.968
chr13:108364208	rs74112579	FAM155A	G>C	6700	4192	29.2	6.54e-08	0.8984
chr6:39737813	rs458330	-	G>A	6778	4236	28.68	8.547e-08	0.8998
chr3:181586376	rs10937067	-	G>A	6414	4016	28.16	1.12e-07	0.8981
chr10:21889083	rs12356674	MLLT10	G>T	139560	77057	27.9	1.28e-07	1.028
chr22:41900439	rs5751117	ACO2	A>G	7517	4666	27.88	1.29e-07	0.9056
chr2:44066247	Affx-20090007	ABCG8	G>C	31809	16846	45.7	1.378e-11	1.069
chr2:44065090	Affx-20089987	ABCG5	G>A	30467	16163	41.44	1.214e-10	1.067
chr2:44073656	rs41360247	ABCG8	T>C	30550	16216	40.77	1.717e-10	1.066
chr2:56189500	rs74938797	-	T>C	174526	100278	38.07	6.836e-10	0.9694
chr6:34827085	rs9469913	UHRF1BP1	A>T	76453	41764	31.93	1.6e-08	1.038
chr2:56199556	rs55805406	-	G>A	180652	103535	30.12	4.056e-08	0.973
chr6:34552797	rs2814944	-	G>A	69886	38183	28.37	1.002e-07	1.037
chr6:31610384	rs1077394	BAG6	T>C	151426	86917	26.81	2.241e-07	0.9734
chr6:126851160	rs1490384	-	T>C	235322	131033	25.45	4.543e-07	1.025
chr10:21957229	rs2183271	MLLT10	T>C	167214	92718	24.93	5.958e-07	1.026
chr5:56774441	rs17738076	-	G>T	188631	107888	24.68	6.753e-07	0.9757
chr6:34683635	rs6938239	-	A>G	66513	36393	24.46	7.606e-07	1.035
chr9:38372471	rs2057375	-	A>G	141864	81421	24.36	7.996e-07	0.9743
chr3:49056150	rs78807522	DALRD3	C>A	55018	32017	23.96	9.826e-07	0.964
chr10:20576790	rs11011932	PLXDC2	C>T	104221	60062	23.8	1.071e-06	0.972
chr3:151097391	rs17283010	MED12L	G>A	172097	95501	23.54	1.226e-06	1.025
chr6:137925101	rs9402906	-	T>C	89017	51391	23.42	1.302e-06	0.9706
chr10:21834536	rs7098100	MLLT10	G>A	160158	88782	23.38	1.327e-06	1.025
chr3:50153356	rs1138536	RBM5	C>T	205826	114495	23.37	1.337e-06	1.024
chr3:49572140	rs4625	DAG1	A>G	141231	81002	23.05	1.577e-06	0.9749

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: I209	Angina pectoris, unspecified	1/20
ICD: I848	Unspecified haemorrhoids with other complications	1/20
ICD: K30	Dyspepsia	2/20
ICD: K409	Unilateral or unspecified inguinal hernia, without obstruction or gangrene	2/20
ICD: K801	Calculus of gallbladder with other cholecystitis	3/20
ICD: K802	Calculus of gallbladder without cholecystitis	3/20
ICD: K804	Calculus of bile duct with cholecystitis	1/20
ICD: K805	Calculus of bile duct without cholangitis or cholecystitis	2/20
ICD: L989	Disorder of skin and subcutaneous tissue, unspecified	2/20
ICD: M169	Coxarthrosis, unspecified	2/20
ICD: M189	Arthrosis of first carpometacarpal joint, unspecified	2/20
ICD: M1994	Arthrosis, unspecified (Hand)	2/20
ICD: M1997	Arthrosis, unspecified (Ankle and foot)	2/20
ICD: M202	Hallux rigidus	2/20
ICD: M841	Nonunion of fracture [pseudarthrosis]	1/20
ICD: N393	Stress incontinence	2/20
ICD: N811	Cystocele	2/20
ICD: R101	Pain localised to upper abdomen	1/20
ICD: R102	Pelvic and perineal pain	1/20
ICD: R104	Other and unspecified abdominal pain	2/20
ICD: R194	Change in bowel habit	2/20
ICD: R33	Retention of urine	4/20

Constitutional symptom

0025142

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Statistics

Phenotype Definition

Phenotype Comment

Top SNP Information

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD-10: A020	Salmonella gastro-enteritis	0/20
ICD-10: A045	Campylobacter enteritis	0/20
ICD-10: B373	Candidiasis of vulva and vagina	0/20
ICD-10: B80	Enterobiasis	0/20
ICD-10: C211	Anal canal	0/20
ICD-10: C492	Connective and soft tissue of lower limb, including hip	0/20
ICD-10: C66	Malignant neoplasm of ureter	0/20
ICD-10: C675	Bladder neck	0/20
ICD-10: C781	Secondary malignant neoplasm of mediastinum	0/20
ICD-10: C795	Secondary malignant neoplasm of bone and bone marrow	0/20
ICD-10: C797	Secondary malignant neoplasm of adrenal gland	0/20
ICD-10: D129	Anus and anal canal	0/20
ICD-10: D210	Connective and other soft tissue of head, face and neck	0/20
ICD-10: D211	Connective and other soft tissue of upper limb, including shoulder	0/20
ICD-10: D212	Connective and other soft tissue of lower limb, including hip	0/20
ICD-10: D381	Trachea, bronchus and lung	0/20
ICD-10: D473	Essential (haemorrhagic) thrombocythaemia	0/20
ICD-10: D481	Connective and other soft tissue	0/20
ICD-10: D62	Acute posthaemorrhagic anaemia	0/20
ICD-10: D752	Essential thrombocytosis	0/20
ICD-10: F320	Mild depressive episode	0/20
ICD-10: F429	Obsessive-compulsive disorder, unspecified	0/20
ICD-10: F458	Other somatoform disorders	0/20
ICD-10: F801	Expressive language disorder	0/20
ICD-10: G530	Postzoster neuralgia	0/20
ICD-10: G553	Nerve root and plexus compressions in other dorsopathies	0/20
ICD-10: G571	Meralgia paraesthetica	0/20
ICD-10: G589	Mononeuropathy, unspecified	0/20
ICD-10: G590	Diabetic mononeuropathy	0/20
ICD-10: G834	Cauda equina syndrome	0/20
ICD-10: G933	Postviral fatigue syndrome	0/20
ICD-10: H000	Hordeolum and other deep inflammation of eyelid	0/20
ICD-10: H018	Other specified inflammation of eyelid	0/20
ICD-10: H113	Conjunctival haemorrhage	0/20
ICD-10: H571	Ocular pain	0/20
ICD-10: H579	Disorder of eye and adnexa, unspecified	0/20
ICD-10: H609	Otitis externa, unspecified	0/20
ICD-10: H659	Nonsuppurative otitis media, unspecified	0/20
ICD-10: H811	Benign paroxysmal vertigo	0/20
ICD-10: H920	Otalgia	0/20
ICD-10: H921	Otorrhoea	0/20
ICD-10: I200	Unstable angina	0/20
ICD-10: I201	Angina pectoris with documented spasm	0/20
ICD-10: I208	Other forms of angina pectoris	0/20
ICD-10: I219	Acute myocardial infarction, unspecified	0/20
ICD-10: I249	Acute ischaemic heart disease, unspecified	0/20
ICD-10: I259	Chronic ischaemic heart disease, unspecified	0/20
ICD-10: I73	Other peripheral vascular diseases	0/20
ICD-10: I792	Peripheral angiopathy in diseases classified elsewhere	0/20
ICD-10: I841	Internal haemorrhoids with other complications	0/20
ICD-10: I842	Internal haemorrhoids without complication	0/20
ICD-10: I843	External thrombosed haemorrhoids	0/20
ICD-10: I844	External haemorrhoids with other complications	0/20
ICD-10: I845	External haemorrhoids without complication	0/20
ICD-10: I846	Residual haemorrhoidal skin tags	0/20
ICD-10: I849	Unspecified haemorrhoids without complication	0/20
ICD-10: I861	Scrotal varices	0/20
ICD-10: I871	Compression of vein	0/20
ICD-10: J00	Acute nasopharyngitis [common cold]	0/20
ICD-10: J869	Pyothorax without fistula	0/20
ICD-10: K076	Temporomandibular joint disorders	0/20
ICD-10: K140	Glossitis	0/20
ICD-10: K291	Other acute gastritis	0/20
ICD-10: K314	Gastric diverticulum	0/20
ICD-10: K350	Acute appendicitis with generalised peritonitis	0/20
ICD-10: K351	Acute appendicitis with peritoneal abscess	0/20
ICD-10: K358	Acute appendicitis, other and unspecified	0/20
ICD-10: K359	Acute appendicitis, unspecified	0/20
ICD-10: K36	Other appendicitis	0/20
ICD-10: K37	Unspecified appendicitis	0/20
ICD-10: K402	Bilateral inguinal hernia, without obstruction or gangrene	0/20
ICD-10: K403	Unilateral or unspecified inguinal hernia, with obstruction, without gangrene	0/20
ICD-10: K590	Constipation	0/20
ICD-10: K599	Functional intestinal disorder, unspecified	0/20
ICD-10: K600	Acute anal fissure	0/20
ICD-10: K601	Chronic anal fissure	0/20
ICD-10: K602	Anal fissure, unspecified	0/20
ICD-10: K620	Anal polyp	0/20
ICD-10: K623	Rectal prolapse	0/20
ICD-10: K627	Radiation proctitis	0/20
ICD-10: K638	Other specified diseases of intestine	0/20
ICD-10: K640	First degree haemorrhoids	0/20
ICD-10: K641	Second degree haemorrhoids	0/20
ICD-10: K642	Third degree haemorrhoids	0/20
ICD-10: K644	Residual haemorrhoidal skin tags	0/20
ICD-10: K648	Other specified haemorrhoids	0/20
ICD-10: K649	Haemorrhoids, unspecified	0/20
ICD-10: K650	Acute peritonitis	0/20
ICD-10: K900	Coeliac disease	0/20
ICD-10: K929	Disease of digestive system, unspecified	0/20
ICD-10: L089	Local infection of skin and subcutaneous tissue, unspecified	0/20
ICD-10: L290	Pruritus ani	0/20
ICD-10: L292	Pruritus vulvae	0/20
ICD-10: L84	Corns and callosities	0/20
ICD-10: L929	Granulomatous disorder of skin and subcutaneous tissue, unspecified	0/20
ICD-10: M160	Primary coxarthrosis, bilateral	0/20
ICD-10: M167	Other secondary coxarthrosis	0/20
ICD-10: M170	Primary gonarthrosis, bilateral	0/20
ICD-10: M171	Other primary gonarthrosis	0/20
ICD-10: M173	Other posttraumatic gonarthrosis	0/20
ICD-10: M179	Gonarthrosis, unspecified	0/20
ICD-10: M180	Primary arthrosis of first carpometacarpal joints, bilateral	0/20
ICD-10: M181	Other primary arthrosis of first carpometacarpal joint	0/20
ICD-10: M190	Primary arthrosis of other joints	0/20
ICD-10: M1995	Arthrosis, unspecified (Pelvic region and thigh)	0/20
ICD-10: M1996	Arthrosis, unspecified-Lower leg	0/20
ICD-10: M1998	Arthrosis, unspecified (Other)	0/20
ICD-10: M1999	Arthrosis, unspecified (Site unspecified)	0/20
ICD-10: M213	Wrist or foot drop (acquired)	0/20
ICD-10: M222	Patellofemoral disorders	0/20
ICD-10: M224	Chondromalacia patellae	0/20
ICD-10: M239	Internal derangement of knee, unspecified	0/20
ICD-10: M241	Other articular cartilage disorders	0/20
ICD-10: M2427	Disorder of ligament (Ankle and foot)	0/20
ICD-10: M255	Pain in joint	0/20
ICD-10: M431	Spondylolisthesis	0/20
ICD-10: M480	Spinal stenosis	0/20
ICD-10: M500	Cervical disk disorder with myelopathy	0/20
ICD-10: M501	Cervical disk disorder with radiculopathy	0/20
ICD-10: M503	Other cervical disk degeneration	0/20
ICD-10: M512	Other specified intervertebral disk displacement	0/20
ICD-10: M513	Other specified intervertebral disk degeneration	0/20
ICD-10: M518	Other specified intervertebral disk disorders	0/20
ICD-10: M541	Radiculopathy	0/20
ICD-10: M542	Cervicalgia	0/20
ICD-10: M543	Sciatica	0/20
ICD-10: M544	Lumbago with sciatica	0/20
ICD-10: M5446	Lumbago with sciatica (Lumbar region)	0/20
ICD-10: M5449	Lumbago with sciatica (Site unspecified)	0/20
ICD-10: M545	Low back pain	0/20
ICD-10: M546	Pain in thoracic spine	0/20
ICD-10: M548	Other dorsalgia	0/20
ICD-10: M549	Dorsalgia, unspecified	0/20
ICD-10: M653	Trigger finger	0/20
ICD-10: M654	Radial styloid tenosynovitis [de Quervain]	0/20
ICD-10: M671	Other contracture of tendon (sheath)	0/20
ICD-10: M702	Olecranon bursitis	0/20
ICD-10: M704	Prepatellar bursitis	0/20
ICD-10: M705	Other bursitis of knee	0/20
ICD-10: M706	Trochanteric bursitis	0/20
ICD-10: M707	Other bursitis of hip	0/20
ICD-10: M712	Synovial cyst of popliteal space [Baker]	0/20
ICD-10: M75	Shoulder lesions	0/20
ICD-10: M750	Adhesive capsulitis of shoulder	0/20
ICD-10: M752	Bicipital tendinitis	0/20
ICD-10: M755	Bursitis of shoulder	0/20
ICD-10: M766	Achilles tendinitis	0/20
ICD-10: M770	Medial epicondylitis	0/20
ICD-10: M771	Lateral epicondylitis	0/20
ICD-10: M775	Other enthesopathy of foot	0/20
ICD-10: M791	Myalgia	0/20
ICD-10: M796	Pain in limb	0/20
ICD-10: M797	Fibromyalgia	0/20
ICD-10: M798	Other specified soft tissue disorders	0/20
ICD-10: M88	Paget's disease of bone [osteitis deformans]	0/20
ICD-10: M899	Disorder of bone, unspecified	0/20
ICD-10: M940	Chondrocostal junction syndrome [Tietze]	0/20
ICD-10: M960	Pseudarthrosis after fusion or arthrodesis	0/20
ICD-10: N23	Unspecified renal colic	0/20
ICD-10: N288	Other specified disorders of kidney and ureter	0/20
ICD-10: N289	Disorder of kidney and ureter, unspecified	0/20
ICD-10: N300	Acute cystitis	0/20
ICD-10: N301	Interstitial cystitis (chronic)	0/20
ICD-10: N302	Other chronic cystitis	0/20
ICD-10: N308	Other cystitis	0/20
ICD-10: N309	Cystitis, unspecified	0/20
ICD-10: N328	Other specified disorders of bladder	0/20
ICD-10: N329	Bladder disorder, unspecified	0/20
ICD-10: N368	Other specified disorders of urethra	0/20
ICD-10: N394	Other specified urinary incontinence	0/20
ICD-10: N398	Other specified disorders of urinary system	0/20
ICD-10: N399	Disorder of urinary system, unspecified	0/20
ICD-10: N411	Chronic prostatitis	0/20
ICD-10: N428	Other specified disorders of prostate	0/20
ICD-10: N459	Orchitis, epididymitis and epididymo-orchitis without abscess	0/20
ICD-10: N484	Impotence of organic origin	0/20
ICD-10: N644	Mastodynia	0/20
ICD-10: N645	Other signs and symptoms in breast	0/20
ICD-10: N751	Abscess of Bartholin's gland	0/20
ICD-10: N764	Abscess of vulva	0/20
ICD-10: N803	Endometriosis of pelvic peritoneum	0/20
ICD-10: N814	Uterovaginal prolapse, unspecified	0/20
ICD-10: N905	Atrophy of vulva	0/20
ICD-10: N907	Vulvar cyst	0/20
ICD-10: N941	Dyspareunia	0/20
ICD-10: N952	Postmenopausal atrophic vaginitis	0/20
ICD-10: O709	Perineal laceration during delivery, unspecified	0/20
ICD-10: O996	Diseases of the digestive system complicating pregnancy, childbirth and the puerperium	0/20
ICD-10: R002	Palpitations	0/20
ICD-10: R02	Gangrene, not elsewhere classified	0/20
ICD-10: R05	Cough	0/20
ICD-10: R060	Dyspnoea	0/20
ICD-10: R062	Wheezing	0/20
ICD-10: R070	Pain in throat	0/20
ICD-10: R071	Chest pain on breathing	0/20
ICD-10: R072	Precordial pain	0/20
ICD-10: R073	Other chest pain	0/20
ICD-10: R074	Chest pain, unspecified	0/20
ICD-10: R093	Abnormal sputum	0/20
ICD-10: R100	Acute abdomen	0/20
ICD-10: R103	Pain localised to other parts of lower abdomen	0/20
ICD-10: R11	Nausea and vomiting	0/20
ICD-10: R12	Heartburn	0/20
ICD-10: R15	Faecal incontinence	0/20
ICD-10: R232	Flushing	0/20
ICD-10: R32	Unspecified urinary incontinence	0/20
ICD-10: R400	Somnolence	0/20
ICD-10: R42	Dizziness and giddiness	0/20
ICD-10: R500	Fever with chills	0/20
ICD-10: R520	Acute pain	0/20
ICD-10: R521	Chronic intractable pain	0/20
ICD-10: R522	Other chronic pain	0/20
ICD-10: R529	Pain, unspecified	0/20
ICD-10: R53	Malaise and fatigue	0/20
ICD-10: R845	Abnormal microbiological findings	0/20
ICD-10: T172	Foreign body in pharynx	0/20
ICD-10: T402	Other opioids	0/20
ICD-10: T819	Unspecified complication of procedure	0/20
ICD-10: T828	Other complications of cardiac and vascular prosthetic devices, implants and grafts	0/20

Constitutional symptom

0025142

Normal Case/Contol ⓘ

Sibling Case/Control ⓘ

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Statistics

Phenotype Definition

Phenotype Comment

Top SNP Information Show Normal Table Show Sibling SNP

Associated Diseases ⓘ Shared SNP diseases No shared SNP diseases

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Top SNP Information

Associated Diseases ^ⓘ