DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: KCNB1 ×

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	Num. diseases
rs1555889162	KCNB1 ; LOC105372649	0.882	0.040	20	49374931	missense variant	G/A;C	snv		6
rs1555889127	KCNB1 ; LOC105372649	1.000	0.040	20	49374625	missense variant	C/T	snv		6
rs587777848	LOC105372649 ; KCNB1	0.882	0.040	20	49374519	missense variant	G/C;T	snv		3
rs1555889130	LOC105372649 ; KCNB1	0.882	0.040	20	49374644	missense variant	G/A	snv		3
rs781663444	KCNB1 ; LOC105372649	1.000		20	49373813	stop gained	G/A;T	snv	4.0E-06	2
rs959316981	LOC105372649 ; KCNB1	0.925	0.040	20	49374377	missense variant	C/T	snv		2
rs1555889108	LOC105372649 ; KCNB1	0.925	0.040	20	49374559	missense variant	A/G	snv		2
rs886039396	LOC105372649 ; KCNB1	1.000		20	49374626	missense variant	G/A	snv		2
rs1568658507	KCNB1	1.000	0.040	20	49482353	missense variant	T/C	snv		1
rs1569017174	KCNB1 ; LOC105372649	1.000	0.040	20	49374455	missense variant	A/G	snv		1
rs1569017045	KCNB1 ; LOC105372649	1.000	0.040	20	49374359	missense variant	C/T	snv		1
rs1569017143	KCNB1 ; LOC105372649	1.000	0.040	20	49374428	missense variant	C/G	snv		1
rs1569017337	KCNB1 ; LOC105372649	1.000	0.040	20	49374703	frameshift variant	A/-	del		1
rs1569017123	KCNB1 ; LOC105372649	1.000	0.040	20	49374421	missense variant	T/C	snv		1
rs1569016820	KCNB1 ; LOC105372649			20	49374071	stop gained	C/A	snv		1
rs1060499592	KCNB1 ; LOC105372649	1.000		20	49374407	missense variant	G/T	snv		1
rs1064794764	KCNB1 ; LOC105372649	1.000		20	49374263	stop gained	G/A	snv		1
rs1555889103	KCNB1 ; LOC105372649	1.000		20	49374472	frameshift variant	C/-	del		1
rs587777849	KCNB1 ; LOC105372649	1.000		20	49374439	missense variant	G/A	snv		1
rs1555889114	LOC105372649 ; KCNB1			20	49374572	missense variant	C/T	snv		1
rs1569017148	LOC105372649 ; KCNB1	1.000	0.040	20	49374430	missense variant	G/T	snv		1
rs1569017205	LOC105372649 ; KCNB1	1.000	0.040	20	49374515	missense variant	C/A	snv		1
rs1569017257	LOC105372649 ; KCNB1	1.000	0.040	20	49374592	missense variant	G/A	snv		1
rs1555889090	LOC105372649 ; KCNB1	1.000	0.040	20	49374416	missense variant	C/G;T	snv		1
rs1569017073	LOC105372649 ; KCNB1	1.000	0.040	20	49374380	missense variant	C/T	snv		1