rs121434467

Orientation

plus

Stabilized

plus

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

Make rs121434467(A;G)

Make rs121434467(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

4295

is a	snp
is	mentioned by
dbSNP	rs121434467
dbSNP (classic)	rs121434467
ClinGen	rs121434467
ebi	rs121434467
HLI	rs121434467
Exac	rs121434467
Gnomad	rs121434467
Varsome	rs121434467
LitVar	rs121434467
Map	rs121434467
PheGenI	rs121434467
Biobank	rs121434467
1000 genomes	rs121434467
hgdp	rs121434467
ensembl	rs121434467
geneview	rs121434467
scholar	rs121434467
google	rs121434467
pharmgkb	rs121434467
gwascentral	rs121434467
openSNP	rs121434467
23andMe	rs121434467
SNPshot	rs121434467
SNPdbe	rs121434467
MSV3d	rs121434467
GWAS Ctlg	rs121434467

GMAF

0.001871

Max Magnitude

0

ClinVar
Risk	rs121434467(G;G)
Alt	rs121434467(G;G)
Reference	Rs121434467(A;A)
Significance	Pathogenic
Disease	Primary familial hypertrophic cardiomyopathy Deafness not specified not provided
Variation	info
Gene
CLNDBN	Primary familial hypertrophic cardiomyopathy Deafness, nonsyndromic sensorineural, mitochondrial not specified not provided
Reversed	0
HGVS	NC_012920.1:m.4295A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010226.2, RCV000022900.2, RCV000223744.1, RCV000224071.1,