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 EXOME	AF GENOME	Num. diseases
rs59110575	KRT14	0.925	0.080	17	41586471	missense variant	G/A	snv			2
rs61027685	KRT14	0.882	0.080	17	41586438	missense variant	C/A;G;T	snv			2
rs61263401	KRT14	0.925	0.080	17	41586480	missense variant	T/C	snv			2
rs147611635	KRT14	1.000	0.080	17	41584282	missense variant	G/T	snv	1.2E-04	4.2E-04	1
rs58380626	KRT14	0.925	0.080	17	41583266	missense variant	A/G	snv			1
rs59629244	KRT14	1.000	0.080	17	41583358	missense variant	A/G	snv			1
rs59780231	KRT14	0.925	0.080	17	41583272	missense variant	C/G;T	snv	2.1E-02		1
rs61326242	KRT14	1.000	0.080	17	41586407	missense variant	A/G	snv	1.6E-05		1
rs61371557	KRT14	1.000	0.080	17	41583872	missense variant	A/C;G	snv			1
rs61540016	KRT14	1.000	0.080	17	41586434	missense variant	C/G;T	snv	4.0E-06		1
rs121912475	KRT5	1.000	0.080	12	52519160	missense variant	C/A;T	snv			1
rs57599352	KRT5	1.000	0.080	12	52516688	missense variant	A/G	snv			1
rs57751134	KRT5	1.000	0.080	12	52519144	missense variant	T/G	snv			1
rs58107458	KRT5	1.000	0.080	12	52517708	missense variant	A/G	snv			1
rs58163069	KRT5	1.000	0.080	12	52519778	missense variant	C/G	snv			1
rs58608695	KRT5	1.000	0.080	12	52515165	missense variant	C/T	snv			1
rs59840738	KRT5	1.000	0.080	12	52517714	missense variant	A/G	snv			1
rs59851104	KRT5	0.925	0.080	12	52519869	missense variant	A/G;T	snv			1
rs61222761	KRT5	0.925	0.080	12	52519824	missense variant	T/A	snv			1
rs80338756	PLEC	0.925	0.080	8	143924012	missense variant	G/A;C;T	snv			1