DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	Num. diseases
rs34603233	ITGA2B	17	44377655	intron variant	AGCCCCTGG/-;AGCCCCTGGAGCCCCTGG	delins	2
rs4699154		4	105112927	intron variant	T/A;C	snv	2
rs75763843	LINC01478	18	44482415	intron variant	A/C;T	snv	2
rs10072221	IQGAP2	5	76424719	intron variant	T/A;C;G	snv	1
rs10274553	CTB-30L5.1	7	106716200	intron variant	T/A;C	snv	1
rs10605167	ENDOD1	11	95095304	intron variant	TCC/-;TCCTCC	delins	1
rs10900828		5	134500603	upstream gene variant	T/A;C;G	snv	1
rs10954750	STYXL1	7	76035603	intron variant	C/A;G	snv	1
rs111896493	ADGRE5	19	14381256	5 prime UTR variant	-/AGTG	delins	1
rs112346425	AP2B1	17	35680792	intron variant	G/C;T	snv	1
rs11235688	P2RY2	11	73236889	upstream gene variant	G/A;C	snv	1
rs11315757	PPP4R1-AS1	18	9617722	intron variant	AA/-;A;AAA;AAAA	delins	1
rs11459029	ARHGEF3	3	56740187	intron variant	-/A	delins	1
rs11477536	DNTTIP1	20	45796388	intron variant	AAAA/-;A;AA;AAA;AAAAA;AAAAAA	delins	1
rs11593377	PROSER2-AS1 ; PROSER2	10	11853098	intron variant	T/C;G	snv	1
rs116383353	TBC1D14	4	6923070	intron variant	G/A;T	snv	1
rs11920280	KALRN	3	124618265	intron variant	A/G;T	snv	1
rs12897108	COCH ; STRN3	14	30893304	intron variant	G/A;T	snv	1
rs13098914	ARHGEF3	3	56800771	intron variant	C/G;T	snv	1
rs13228847	CAPZA2	7	116904931	intron variant	G/A;T	snv	1
rs141490673	PRELID3B ; SLMO2-ATP5E	20	59035769	intron variant	C/G;T	snv	1
rs1558324	LOC105369623	12	6180053	intergenic variant	G/A;C	snv	1
rs157198		1	28877395	upstream gene variant	T/A;C	snv	1
rs192856		4	126578990	intron variant	T/A;C	snv	1
rs200880	LOC107984104	20	1795547	intron variant	T/A;C	snv	1