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rs886043182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Chromosome18
Position2732454
GeneSMCHD1
is asnp
is mentioned by
dbSNPrs886043182
dbSNP (classic)rs886043182
ClinGenrs886043182
ebirs886043182
HLIrs886043182
Exacrs886043182
Gnomadrs886043182
Varsomers886043182
LitVarrs886043182
Maprs886043182
PheGenIrs886043182
Biobankrs886043182
1000 genomesrs886043182
hgdprs886043182
ensemblrs886043182
geneviewrs886043182
scholarrs886043182
googlers886043182
pharmgkbrs886043182
gwascentralrs886043182
openSNPrs886043182
23andMers886043182
SNPshotrs886043182
SNPdbers886043182
MSV3drs886043182
GWAS Ctlgrs886043182
Max Magnitude0
ClinVar
Risk rs886043182(-;-)
Alt rs886043182(-;-)
Reference Rs886043182(AG;AG)
Significance Pathogenic
Disease Facioscapulohumeral muscular dystrophy 2
Variation info
Gene SMCHD1
CLNDBN Facioscapulohumeral muscular dystrophy 2
Reversed 0
HGVS NC_000018.9:g.2732452_2732453delGA
CLNSRC
CLNACC RCV000261917.1,