rs41276445

Orientation

plus

Stabilized

plus

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

Make rs41276445(A;A)

Make rs41276445(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

53730470

Gene

CACNA1D

is a	snp
is	mentioned by
dbSNP	rs41276445
dbSNP (classic)	rs41276445
ClinGen	rs41276445
ebi	rs41276445
HLI	rs41276445
Exac	rs41276445
Gnomad	rs41276445
Varsome	rs41276445
LitVar	rs41276445
Map	rs41276445
PheGenI	rs41276445
Biobank	rs41276445
1000 genomes	rs41276445
hgdp	rs41276445
ensembl	rs41276445
geneview	rs41276445
scholar	rs41276445
google	rs41276445
pharmgkb	rs41276445
gwascentral	rs41276445
openSNP	rs41276445
23andMe	rs41276445
SNPshot	rs41276445
SNPdbe	rs41276445
MSV3d	rs41276445
GWAS Ctlg	rs41276445

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs41276445(A;A) rs41276445(G;G) rs41276445(T;T)
Alt	rs41276445(A;A) rs41276445(G;G) rs41276445(T;T)
Reference	Rs41276445(C;C)
Significance	Pathogenic
Disease	Sinoatrial node dysfunction and deafness Primary aldosteronism not provided
Variation	info
Gene	CACNA1D
CLNDBN	Sinoatrial node dysfunction and deafness Primary aldosteronism, seizures, and neurologic abnormalities not provided
Reversed	0
HGVS	NC_000003.11:g.53764497C>A; NC_000003.11:g.53764497C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000477872.1, RCV000056308.27, RCV000122488.1,