rs121908989

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	6.2	Familial Hypertrophic Cardiomyopathy

Make rs121908989(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

151564199

Gene

PRKAG2

is a	snp
is	mentioned by
dbSNP	rs121908989
dbSNP (classic)	rs121908989
ClinGen	rs121908989
ebi	rs121908989
HLI	rs121908989
Exac	rs121908989
Gnomad	rs121908989
Varsome	rs121908989
LitVar	rs121908989
Map	rs121908989
PheGenI	rs121908989
Biobank	rs121908989
1000 genomes	rs121908989
hgdp	rs121908989
ensembl	rs121908989
geneview	rs121908989
scholar	rs121908989
google	rs121908989
pharmgkb	rs121908989
gwascentral	rs121908989
openSNP	rs121908989
23andMe	rs121908989
SNPshot	rs121908989
SNPdbe	rs121908989
MSV3d	rs121908989
GWAS Ctlg	rs121908989

Max Magnitude

6.2

OMIM	602743
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908989(T;T)
Alt	rs121908989(T;T)
Reference	Rs121908989(A;A)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 6
Variation	info
Gene	PRKAG2
CLNDBN	Familial hypertrophic cardiomyopathy 6
Reversed	1
HGVS	NC_000007.13:g.151261285T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007253.5,