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rs886043468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome18
Position2769773
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs886043468
dbSNP (classic)rs886043468
ClinGenrs886043468
ebirs886043468
HLIrs886043468
Exacrs886043468
Gnomadrs886043468
Varsomers886043468
LitVarrs886043468
Maprs886043468
PheGenIrs886043468
Biobankrs886043468
1000 genomesrs886043468
hgdprs886043468
ensemblrs886043468
geneviewrs886043468
scholarrs886043468
googlers886043468
pharmgkbrs886043468
gwascentralrs886043468
openSNPrs886043468
23andMers886043468
SNPshotrs886043468
SNPdbers886043468
MSV3drs886043468
GWAS Ctlgrs886043468
Max Magnitude0
ClinVar
Risk rs886043468(T;T)
Alt rs886043468(T;T)
Reference Rs886043468(-;-)
Significance Pathogenic
Disease Facioscapulohumeral muscular dystrophy 2
Variation info
Gene SMCHD1
CLNDBN Facioscapulohumeral muscular dystrophy 2
Reversed 0
HGVS NC_000018.9:g.2769771dupT
CLNSRC
CLNACC RCV000270569.1,