Have questions? Visit https://www.reddit.com/r/SNPedia

rs886044129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome18
Position2771586
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs886044129
dbSNP (classic)rs886044129
ClinGenrs886044129
ebirs886044129
HLIrs886044129
Exacrs886044129
Gnomadrs886044129
Varsomers886044129
LitVarrs886044129
Maprs886044129
PheGenIrs886044129
Biobankrs886044129
1000 genomesrs886044129
hgdprs886044129
ensemblrs886044129
geneviewrs886044129
scholarrs886044129
googlers886044129
pharmgkbrs886044129
gwascentralrs886044129
openSNPrs886044129
23andMers886044129
SNPshotrs886044129
SNPdbers886044129
MSV3drs886044129
GWAS Ctlgrs886044129
Max Magnitude0
ClinVar
Risk rs886044129(-;-)
Alt rs886044129(-;-)
Reference Rs886044129(A;A)
Significance Pathogenic
Disease Facioscapulohumeral muscular dystrophy 2
Variation info
Gene SMCHD1
CLNDBN Facioscapulohumeral muscular dystrophy 2
Reversed 0
HGVS NC_000018.9:g.2771584delA
CLNSRC
CLNACC RCV000372847.1,