Q89.2

Case	Control
107	460098

Case

Control

107

460098

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr13:31217720	rs111691213	USPL1	T>C	13	12572	35.36	2.744e-09	4.675
chr3:139374955	rs79918150	NMNAT3	T>C	15	16353	33.72	6.368e-09	4.17
chr3:139298333	rs77051738	NMNAT3	A>G	13	14140	29.22	6.464e-08	4.146
chr11:16813441	rs79027932	PLEKHA7	A>G	12	12691	28.25	1.066e-07	4.253
chr2:226677516	rs73076477	-	C>A	11	11203	27.52	1.553e-07	4.406
chr2:2182206	rs10202209	MYT1L	C>A	38	74562	27.5	1.568e-07	2.467
chr2:219175658	rs111494465	PNKD	T>A	21	31728	27.21	1.825e-07	3.125
chr7:43982792	rs41279603	UBE2D4	A>G	15	18485	27.21	1.826e-07	3.672
chr13:42116856	rs9532891	-	G>A	32	58990	25.99	3.435e-07	2.555
chr1:248842342	rs112922158	-	C>T	12	13432	25.68	4.019e-07	4.013
chr14:66826641	rs75508889	-	G>A	11	11918	24.8	6.348e-07	4.13
chr1:55738561	rs34605587	-	T>G	30	55278	24.64	6.897e-07	2.558
chr8:37688966	rs111714720	ADGRA2	G>A	11	12139	24.04	9.452e-07	4.052
chr2:242002306	rs74820922	SNED1	G>A	11	12266	23.56	1.211e-06	4.004
chr1:248831636	rs111431288	-	C>T	11	12533	22.6	2e-06	3.905
chr13:92038976	rs78464488	-	C>T	18	27289	22.19	2.472e-06	3.008
chr12:86808980	rs1922749	MGAT4C	T>C	103	306926	21.95	2.797e-06	1.86
chr8:37734755	rs61746628	RAB11FIP1	G>A	10	11034	21.91	2.858e-06	4.047
chr11:58920492	rs116918730	FAM111A	C>G	24	42591	21.53	3.491e-06	2.624
chr17:12026459	rs76346069	MAP2K4	C>T	14	18918	21.48	3.57e-06	3.337

Associated Phenotypes ^ⓘ

Name

Top Correlation

ID	Name	Top Correlation
HP: 0000008	Abnormal morphology of female internal genitalia	0/20
HP: 0000032	Abnormality of male external genitalia	0/20
HP: 0000036	Abnormality of the penis	0/20
HP: 0000050	Hypoplastic male external genitalia	0/20
HP: 0000054	Micropenis	0/20
HP: 0000055	Abnormality of female external genitalia	0/20
HP: 0000056	Abnormality of the clitoris	0/20
HP: 0000078	Abnormality of the genital system	0/20
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000119	Abnormality of the genitourinary system	0/20
HP: 0000142	Abnormal vagina morphology	0/20
HP: 0000148	Vaginal atresia	0/20
HP: 0000811	Abnormal external genitalia	0/20
HP: 0000812	Abnormal internal genitalia	0/20
HP: 0001153	Septate vagina	0/20
HP: 0001827	Genital tract atresia	0/20
HP: 0002086	Abnormality of the respiratory system	0/20
HP: 0002793	Abnormal pattern of respiration	0/20
HP: 0002795	Functional respiratory abnormality	0/20
HP: 0002883	Hyperventilation	0/20
HP: 0003241	External genital hypoplasia	0/20
HP: 0004879	Intermittent hyperventilation	0/20
HP: 0008736	Hypoplasia of penis	0/20
HP: 0010458	Female pseudohermaphroditism	0/20
HP: 0010460	Abnormality of the female genitalia	0/20
HP: 0010461	Abnormality of the male genitalia	0/20
HP: 0012243	Abnormal reproductive system morphology	0/20
HP: 0030912	Duplicated clitoris	0/20
HP: 0031923	Hematocolpos	0/20

Name

Top Correlation

0/20

0/20

0/20