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rs397518422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397518422(C;T)
Make rs397518422(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position2700851
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs397518422
ebirs397518422
HLIrs397518422
Exacrs397518422
Varsomers397518422
Maprs397518422
PheGenIrs397518422
hapmaprs397518422
1000 genomesrs397518422
hgdprs397518422
ensemblrs397518422
gopubmedrs397518422
geneviewrs397518422
scholarrs397518422
googlers397518422
pharmgkbrs397518422
gwascentralrs397518422
openSNPrs397518422
23andMers397518422
23andMe allrs397518422
SNP Nexus

SNPshotrs397518422
SNPdbers397518422
MSV3drs397518422
GWAS Ctlgrs397518422
Max Magnitude0
ClinVar
Risk rs397518422(T;T)
Alt rs397518422(T;T)
Reference rs397518422(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.2700849C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074384.3,