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rs886044257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome18
Position2770021
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs886044257
dbSNP (classic)rs886044257
ClinGenrs886044257
ebirs886044257
HLIrs886044257
Exacrs886044257
Gnomadrs886044257
Varsomers886044257
LitVarrs886044257
Maprs886044257
PheGenIrs886044257
Biobankrs886044257
1000 genomesrs886044257
hgdprs886044257
ensemblrs886044257
geneviewrs886044257
scholarrs886044257
googlers886044257
pharmgkbrs886044257
gwascentralrs886044257
openSNPrs886044257
23andMers886044257
SNPshotrs886044257
SNPdbers886044257
MSV3drs886044257
GWAS Ctlgrs886044257
Max Magnitude0
ClinVar
Risk rs886044257(A;A)
Alt rs886044257(A;A)
Reference Rs886044257(-;-)
Significance Probable-Pathogenic
Disease Facioscapulohumeral muscular dystrophy 2
Variation info
Gene SMCHD1
CLNDBN Facioscapulohumeral muscular dystrophy 2
Reversed 0
HGVS NC_000018.9:g.2770019dupA
CLNSRC
CLNACC RCV000348909.1,