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rs727504273

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504273(A;C)
Make rs727504273(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23431781
GeneMYH7
is asnp
is mentioned by
dbSNPrs727504273
dbSNP (classic)rs727504273
ClinGenrs727504273
ebirs727504273
HLIrs727504273
Exacrs727504273
Gnomadrs727504273
Varsomers727504273
LitVarrs727504273
Maprs727504273
PheGenIrs727504273
Biobankrs727504273
1000 genomesrs727504273
hgdprs727504273
ensemblrs727504273
geneviewrs727504273
scholarrs727504273
googlers727504273
pharmgkbrs727504273
gwascentralrs727504273
openSNPrs727504273
23andMers727504273
SNPshotrs727504273
SNPdbers727504273
MSV3drs727504273
GWAS Ctlgrs727504273
Max Magnitude0
ClinVar
Risk rs727504273(C;C)
Alt rs727504273(C;C)
Reference Rs727504273(A;A)
Significance Pathogenic
Disease not specified Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23900990T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000154271.3, RCV000231809.1,