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rs886044419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome18
Position2770040
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs886044419
dbSNP (classic)rs886044419
ClinGenrs886044419
ebirs886044419
HLIrs886044419
Exacrs886044419
Gnomadrs886044419
Varsomers886044419
LitVarrs886044419
Maprs886044419
PheGenIrs886044419
Biobankrs886044419
1000 genomesrs886044419
hgdprs886044419
ensemblrs886044419
geneviewrs886044419
scholarrs886044419
googlers886044419
pharmgkbrs886044419
gwascentralrs886044419
openSNPrs886044419
23andMers886044419
SNPshotrs886044419
SNPdbers886044419
MSV3drs886044419
GWAS Ctlgrs886044419
Max Magnitude0
ClinVar
Risk rs886044419(G;G)
Alt rs886044419(G;G)
Reference Rs886044419(T;T)
Significance Pathogenic
Disease Facioscapulohumeral muscular dystrophy 2
Variation info
Gene SMCHD1
CLNDBN Facioscapulohumeral muscular dystrophy 2
Reversed 0
HGVS NC_000018.9:g.2770038T>G
CLNSRC
CLNACC RCV000360711.1,