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rs730880837

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880837(C;T)
Make rs730880837(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23432689
GeneMYH7
is asnp
is mentioned by
dbSNPrs730880837
ebirs730880837
HLIrs730880837
Exacrs730880837
Varsomers730880837
Maprs730880837
PheGenIrs730880837
hapmaprs730880837
1000 genomesrs730880837
hgdprs730880837
ensemblrs730880837
gopubmedrs730880837
geneviewrs730880837
scholarrs730880837
googlers730880837
pharmgkbrs730880837
gwascentralrs730880837
openSNPrs730880837
23andMers730880837
23andMe allrs730880837
SNP Nexus

SNPshotrs730880837
SNPdbers730880837
MSV3drs730880837
GWAS Ctlgrs730880837
Max Magnitude0
ClinVar
Risk rs730880837(T;T)
Alt rs730880837(T;T)
Reference rs730880837(C;C)
Significance Probable-Pathogenic
Disease not provided not specified Congenital myopathy
Variation info
Gene MYH7
CLNDBN not provided not specified Congenital myopathy
Reversed 1
HGVS NC_000014.8:g.23901898G>A
CLNSRC
CLNACC RCV000158735.1, RCV000168837.2, RCV000232512.1,