rs141764279

Orientation

plus

Stabilized

plus

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

Make rs141764279(G;T)

Make rs141764279(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23418398

Gene	MIR208B, MYH7

is a	snp
is	mentioned by
dbSNP	rs141764279
dbSNP (classic)	rs141764279
ClinGen	rs141764279
ebi	rs141764279
HLI	rs141764279
Exac	rs141764279
Gnomad	rs141764279
Varsome	rs141764279
LitVar	rs141764279
Map	rs141764279
PheGenI	rs141764279
Biobank	rs141764279
1000 genomes	rs141764279
hgdp	rs141764279
ensembl	rs141764279
geneview	rs141764279
scholar	rs141764279
google	rs141764279
pharmgkb	rs141764279
gwascentral	rs141764279
openSNP	rs141764279
23andMe	rs141764279
SNPshot	rs141764279
SNPdbe	rs141764279
MSV3d	rs141764279
GWAS Ctlg	rs141764279

Max Magnitude

0

ClinVar
Risk	rs141764279(A;A) rs141764279(T;T)
Alt	rs141764279(A;A) rs141764279(T;T)
Reference	Rs141764279(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation	info
Gene	MYH7 MIR208B
CLNDBN	not specified Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed	0
HGVS	NC_000014.8:g.23887607G>A; NC_000014.8:g.23887607G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000429804.1, RCV000030319.5, RCV000035878.5, RCV000196240.3, RCV000254007.1,

[PMID 15483641] One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

[PMID 21310275] Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.