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rs397514623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514623(C;T)
Make rs397514623(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position2707567
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs397514623
ebirs397514623
HLIrs397514623
Exacrs397514623
Varsomers397514623
Maprs397514623
PheGenIrs397514623
hapmaprs397514623
1000 genomesrs397514623
hgdprs397514623
ensemblrs397514623
gopubmedrs397514623
geneviewrs397514623
scholarrs397514623
googlers397514623
pharmgkbrs397514623
gwascentralrs397514623
openSNPrs397514623
23andMers397514623
23andMe allrs397514623
SNP Nexus

SNPshotrs397514623
SNPdbers397514623
MSV3drs397514623
GWAS Ctlgrs397514623
Max Magnitude0
ClinVar
Risk rs397514623(T;T)
Alt rs397514623(T;T)
Reference rs397514623(C;C)
Significance Pathogenic
Disease Facioscapulohumeral muscular dystrophy 2
Variation info
Gene SMCHD1
CLNDBN Facioscapulohumeral muscular dystrophy 2
Reversed 0
HGVS NC_000018.9:g.2707565C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033083.3,