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	AF GENOME	Num. diseases
rs12549576		8	111963912	intergenic variant	A/G	snv	4.0E-02	2
rs2266887	HCFC1 ; TMEM187	X	153974136	intron variant	G/C;T	snv		2
rs5987245	TKTL1	X	154323037	intron variant	A/G	snv	0.22	2
rs766420	TKTL1	X	154326058	intron variant	C/G	snv	0.32	2
rs766419	TKTL1	X	154326315	intron variant	A/G	snv	0.31	2
rs2239467	TKTL1	X	154326948	intron variant	A/G	snv	0.28	2
rs2239468	TKTL1	X	154327040	intron variant	T/A	snv	0.36	2
rs12823467		12	20790642	intergenic variant	T/C	snv	0.59	2
rs12313384		12	20790827	intergenic variant	G/T	snv	0.58	2
rs10841642		12	20791740	intergenic variant	C/A;T	snv		2
rs4762785		12	20792339	intergenic variant	T/A;G	snv		2
rs10841645		12	20795800	intergenic variant	A/C	snv	0.59	2
rs11045505		12	20796512	intergenic variant	C/T	snv	0.59	2
rs10841648		12	20801623	intergenic variant	C/A;T	snv		2
rs2417940	SLCO1B3 ; SLCO1B3-SLCO1B7	12	20864941	intron variant	T/A;C	snv		3
rs11045598	SLCO1B3-SLCO1B7	12	20918279	intron variant	A/G	snv	0.14	2
rs2117032	SLCO1B3-SLCO1B7	12	20921188	intron variant	C/T	snv	0.47	2
rs12366506	SLCO1B3-SLCO1B7	12	20926661	intron variant	C/T	snv	0.14	2
rs11045603	SLCO1B3-SLCO1B7	12	20930460	intron variant	A/G;T	snv		2
rs10841712	SLCO1B3-SLCO1B7	12	20933449	intron variant	A/G	snv	0.47	2
rs11045611	SLCO1B3-SLCO1B7	12	20946338	intron variant	A/C	snv	0.14	2
rs1910196	SLCO1B3-SLCO1B7 ; SLCO1B7	12	20964279	intron variant	G/A	snv	0.47	2
rs11045626	SLCO1B7 ; SLCO1B3-SLCO1B7	12	20965963	intron variant	A/G	snv	0.14	2
rs11045627	SLCO1B3-SLCO1B7 ; SLCO1B7	12	20966129	intron variant	C/G;T	snv		2
rs11045630	SLCO1B3-SLCO1B7 ; SLCO1B7	12	20972587	intron variant	T/C	snv	0.14	2