DisGeNET - a database of gene-disease associations

Results per page

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 EXOME	AF GENOME	Num. diseases
rs1331308	HBS1L			6	135083984	intron variant	A/C	snv		0.61	1
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs9389268	HBS1L	1.000	0.080	6	135098493	intron variant	A/G	snv		0.24	3
rs148394396	HBS1L			6	135022389	intron variant	A/T	snv		4.9E-03	1
rs567333455	HBS1L			6	135094331	intron variant	AAA/-;A;AA;AAAA;AAAAA;AAAAAA	delins			1
rs530424960	HBS1L			6	135028265	intron variant	AAA/-;AA;AAAA;AAAAA	delins			2
rs4896131	HBS1L			6	135070962	intron variant	C/A	snv		0.56	1
rs9376091	HBS1L			6	135098498	intron variant	C/A;T	snv			1
rs7745098	HBS1L	1.000	0.120	6	135093866	intron variant	C/G;T	snv			1
rs35959442	HBS1L			6	135103041	5 prime UTR variant	C/G;T	snv	0.24		1
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	11
rs34164109	HBS1L			6	135100038	intron variant	C/T	snv		0.22	2
rs9402673	HBS1L			6	135001482	intron variant	C/T	snv		0.43	1
rs66650371	HBS1L	0.925	0.080	6	135097495	intron variant	CTA/-;CTACTA	delins		0.19	1
rs2210366	HBS1L			6	135094070	intron variant	G/A	snv		0.34	2
rs35786788	HBS1L			6	135097904	intron variant	G/A	snv		0.19	2
rs35367489	HBS1L			6	135023317	intron variant	G/A	snv		0.32	1
rs1547247	HBS1L			6	135069698	intron variant	G/A	snv		0.22	1
rs9399135	HBS1L			6	135047176	intron variant	G/A	snv		0.62	1
rs56131511	HBS1L			6	135068381	intron variant	G/A;C	snv			1
rs11757577	HBS1L			6	135070327	intron variant	G/A;T	snv			1
rs9402682	HBS1L			6	135085045	intron variant	G/T	snv		0.42	2
rs9376090	HBS1L			6	135090090	intron variant	T/C	snv		0.19	7
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv		0.20	6
rs9399136	HBS1L			6	135081201	intron variant	T/C	snv		0.18	4