DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs905938	ZBTB7B ; DCST2			1	155018913	intron variant	T/C	snv	0.24	5
rs17367504	MTHFR	1.000	0.040	1	11802721	intron variant	A/G	snv	0.14	4
rs670523	RIT1	1.000	0.040	1	155908941	intron variant	A/G	snv	0.48	3
rs7541039	PROX1			1	214003436	intron variant	C/T	snv	0.27	2
rs10913200	PAPPA2			1	176552519	intron variant	G/A	snv	1.8E-02	1
rs116276359	THEM5 ; C2CD4D-AS1			1	151848954	intron variant	C/A	snv	1.5E-02	1
rs12401656	SLC2A1-AS1			1	42991096	intron variant	G/A	snv	0.19	1
rs144126567				1	161540726	intron variant	C/G	snv	5.4E-02	1
rs1937436	PDE4B			1	65975646	intron variant	G/A;T	snv		1
rs2473248				1	22210150	intergenic variant	T/C	snv	0.83	1
rs2755253	SLC35D1			1	67005160	intron variant	C/T	snv	0.65	1
rs2807319				1	22227683	intergenic variant	A/G;T	snv		1
rs3753639	ZBTB7B			1	155013615	intron variant	T/C	snv	0.21	1
rs3806315	PTPN14			1	214551325	5 prime UTR variant	G/A;C	snv		1
rs41276588	LOC100996263 ; TENT5C			1	117605762	non coding transcript exon variant	G/A	snv	0.21	1
rs4330912	ARHGEF2 ; LOC107985208 ; ARHGEF2-AS1			1	155999637	intron variant	C/G	snv	0.53	1
rs4655413	USH2A			1	215655157	intron variant	C/T	snv	0.21	1
rs4908404				1	28365223	upstream gene variant	T/A;C	snv		1
rs61830764				1	212116634	intergenic variant	G/A	snv	0.28	1
rs6426985	KCNN3			1	154841143	intron variant	G/A	snv	0.43	1
rs67775399	FCGR2C			1	161602563	intron variant	T/C;G	snv		1
rs708122	WNT3A			1	228029296	intron variant	C/A	snv	0.28	1
rs72480273	FCGR2B			1	161675081	non coding transcript exon variant	A/C	snv	0.16	1
rs7525870	MIGA1			1	77803522	intron variant	G/A	snv	0.23	1
rs787541	LOC105378780			1	67585547	regulatory region variant	G/C	snv	0.33	1