rs786204795

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs786204795(A;A)

Make rs786204795(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

21

Position

37714697

Gene	KCNJ6, LOC105372799, LOC107985507

is a	snp
is	mentioned by
dbSNP	rs786204795
dbSNP (classic)	rs786204795
ClinGen	rs786204795
ebi	rs786204795
HLI	rs786204795
Exac	rs786204795
Gnomad	rs786204795
Varsome	rs786204795
LitVar	rs786204795
Map	rs786204795
PheGenI	rs786204795
Biobank	rs786204795
1000 genomes	rs786204795
hgdp	rs786204795
ensembl	rs786204795
geneview	rs786204795
scholar	rs786204795
google	rs786204795
pharmgkb	rs786204795
gwascentral	rs786204795
openSNP	rs786204795
23andMe	rs786204795
SNPshot	rs786204795
SNPdbe	rs786204795
MSV3d	rs786204795
GWAS Ctlg	rs786204795

Max Magnitude

0

ClinVar
Risk	rs786204795(A;A)
Alt	rs786204795(A;A)
Reference	Rs786204795(G;G)
Significance	Pathogenic
Disease	Keppen-Lubinsky syndrome
Variation	info
Gene	KCNJ6
CLNDBN	Keppen-Lubinsky syndrome
Reversed	1
HGVS	NC_000021.8:g.39087000C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000169689.3,