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rs886044688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome17
Position50167607
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs886044688
dbSNP (classic)rs886044688
ClinGenrs886044688
ebirs886044688
HLIrs886044688
Exacrs886044688
Gnomadrs886044688
Varsomers886044688
LitVarrs886044688
Maprs886044688
PheGenIrs886044688
Biobankrs886044688
1000 genomesrs886044688
hgdprs886044688
ensemblrs886044688
geneviewrs886044688
scholarrs886044688
googlers886044688
pharmgkbrs886044688
gwascentralrs886044688
openSNPrs886044688
23andMers886044688
23andMe allrs886044688
SNPshotrs886044688
SNPdbers886044688
MSV3drs886044688
GWAS Ctlgrs886044688
Max Magnitude0
ClinVar
Risk rs886044688(C;C)
Alt rs886044688(C;C)
Reference Rs886044688(-;-)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48244968dupC
CLNSRC
CLNACC RCV000339036.1,