D17.3

Case	Control
479	459726

Case

Control

479

459726

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr4:1906289	rs73796609	NSD2	T>C	35	10494	49.41	2.074e-12	3.147
chr12:11895194	rs2724641	ETV6	A>G	54	21488	41.15	1.409e-10	2.386
chr1:39550210	rs260972	MACF1	T>C	37	12520	41.07	1.471e-10	2.796
chr6:124133484	rs9490939	NKAIN2	A>G	40	14078	40.66	1.811e-10	2.687
chr19:10036464	rs10419283	OLFM2	A>G	54	21969	39.45	3.359e-10	2.346
chr19:7871040	rs473730	-	G>A	47	18022	39.31	3.607e-10	2.473
chr19:7861278	rs10422905	-	G>A	39	13841	38.72	4.902e-10	2.661
chr19:7861485	rs6603125	-	A>C	47	18219	38.55	5.348e-10	2.453
chr8:87153904	rs55838745	ATP6V0D2	C>T	54	22481	37.24	1.043e-09	2.293
chr8:87213002	rs16898059	-	C>T	55	23159	36.37	1.631e-09	2.256
chr19:42392310	rs2288509	ARHGEF1	C>T	45	17499	35.59	2.431e-09	2.415
chr18:9536315	rs14336	RALBP1	A>C	36	12831	35.52	2.526e-09	2.646
chr6:166843809	rs57106460	RPS6KA2	A>G	35	12418	34.85	3.552e-09	2.656
chr5:31869482	rs10472788	PDZD2	A>G	69	32333	34.65	3.947e-09	2.051
chr19:42393286	rs717225	ARHGEF1	A>G	52	21891	34.54	4.17e-09	2.257
chr13:31074486	rs7326905	HMGB1	G>A	31	10578	33.65	6.582e-09	2.759
chr2:163216109	rs3213843	GCA	C>T	34	12118	33.57	6.86e-09	2.645
chr19:7860764	rs10401786	-	T>C	46	18659	33.47	7.247e-09	2.334
chr10:117649124	rs7904803	ATRNL1	C>A	46	18640	33.15	8.523e-09	2.327
chr19:42391425	rs28521795	ARHGEF1	G>A	46	18776	32.99	9.247e-09	2.321

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0003549	Abnormality of connective tissue	2/20
HP: 0006772	Renal angiomyolipoma	1/20
HP: 0007379	Neoplasm of the genitourinary tract	1/20
HP: 0008696	Renal hamartoma	1/20
HP: 0009124	Abnormal adipose tissue morphology	1/20
HP: 0009726	Renal neoplasm	1/20
HP: 0012031	Lipomatous tumor	1/20
HP: 0012032	Lipoma	1/20
HP: 0012034	Liposarcoma	1/20
HP: 0012216	Entrapment neuropathy of suprascapular nerve	1/20
HP: 0012268	Myxoid liposarcoma	1/20
HP: 0030815	Lipoma of the tongue	1/20
HP: 0100649	Neoplasm of the oral cavity	1/20
HP: 0200013	Neoplasm of fatty tissue	1/20

Name

Top Correlation

HP: 0003549

Abnormality of connective tissue

2/20

HP: 0006772

Renal angiomyolipoma

1/20

HP: 0007379

Neoplasm of the genitourinary tract

1/20

HP: 0008696

Renal hamartoma

1/20

HP: 0009124

Abnormal adipose tissue morphology

1/20

1/20

1/20

1/20

1/20

Entrapment neuropathy of suprascapular nerve

1/20

1/20

1/20

Neoplasm of the oral cavity

1/20

HP: 0200013

Neoplasm of fatty tissue

1/20

ID	Name	Top Correlation
HP: 0000077	Abnormality of the kidney	0/20
HP: 0000079	Abnormality of the urinary system	0/20
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000119	Abnormality of the genitourinary system	0/20
HP: 0000152	Abnormality of head or neck	0/20
HP: 0000153	Abnormality of the mouth	0/20
HP: 0000157	Abnormality of the tongue	0/20
HP: 0000163	Abnormal oral cavity morphology	0/20
HP: 0000234	Abnormality of the head	0/20
HP: 0000271	Abnormality of the face	0/20
HP: 0000707	Abnormality of the nervous system	0/20
HP: 0000759	Abnormal peripheral nervous system morphology	0/20
HP: 0002664	Neoplasm	0/20
HP: 0009830	Peripheral neuropathy	0/20
HP: 0010566	Hamartoma	0/20
HP: 0010786	Urinary tract neoplasm	0/20
HP: 0010935	Abnormality of the upper urinary tract	0/20
HP: 0011792	Neoplasm by histology	0/20
HP: 0011793	Neoplasm by anatomical site	0/20
HP: 0012181	Entrapment neuropathy	0/20
HP: 0012639	Abnormal nervous system morphology	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0031816	Abnormal oral morphology	0/20
HP: 0100648	Neoplasm of the tongue	0/20

Name

Top Correlation

HP: 0000077

Abnormality of the kidney

0/20

HP: 0000079

Abnormality of the urinary system

0/20

HP: 0000118

Phenotypic abnormality

0/20

HP: 0000119