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	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv	0.24	13
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv	6.9E-02	11
rs9376090	HBS1L			6	135090090	intron variant	T/C	snv	0.19	7
rs34208856	HBS1L			6	135099930	intron variant	TT/-;T;TTT;TTTTTTTTT	delins		6
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
rs9389268	HBS1L	1.000	0.080	6	135098493	intron variant	A/G	snv	0.24	3
rs34164109	HBS1L			6	135100038	intron variant	C/T	snv	0.22	2
rs1331309	HBS1L			6	135085040	intron variant	T/G	snv	0.19	2
rs2210366	HBS1L			6	135094070	intron variant	G/A	snv	0.34	2
rs9373124	HBS1L			6	135102071	intron variant	T/C	snv	0.33	2
rs9402682	HBS1L			6	135085045	intron variant	G/T	snv	0.42	2
rs35786788	HBS1L			6	135097904	intron variant	G/A	snv	0.19	2
rs530424960	HBS1L			6	135028265	intron variant	AAA/-;AA;AAAA;AAAAA	delins		2
rs6904897	HBS1L			6	135061842	intron variant	T/G	snv	0.34	2
rs12664956	HBS1L			6	135063050	intron variant	T/C	snv	0.31	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
rs41294858	HBS1L			6	135091498	intron variant	T/C	snv	0.11	1
rs9399135	HBS1L			6	135047176	intron variant	G/A	snv	0.62	1
rs7745098	HBS1L	1.000	0.120	6	135093866	intron variant	C/G;T	snv		1
rs9376091	HBS1L			6	135098498	intron variant	C/A;T	snv		1
rs11757577	HBS1L			6	135070327	intron variant	G/A;T	snv		1
rs1331308	HBS1L			6	135083984	intron variant	A/C	snv	0.61	1
rs56131511	HBS1L			6	135068381	intron variant	G/A;C	snv		1