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rs886043962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome17
Position50170165
GeneSGCA
is asnp
is mentioned by
dbSNPrs886043962
dbSNP (classic)rs886043962
ClinGenrs886043962
ebirs886043962
HLIrs886043962
Exacrs886043962
Gnomadrs886043962
Varsomers886043962
LitVarrs886043962
Maprs886043962
PheGenIrs886043962
Biobankrs886043962
1000 genomesrs886043962
hgdprs886043962
ensemblrs886043962
geneviewrs886043962
scholarrs886043962
googlers886043962
pharmgkbrs886043962
gwascentralrs886043962
openSNPrs886043962
23andMers886043962
23andMe allrs886043962
SNPshotrs886043962
SNPdbers886043962
MSV3drs886043962
GWAS Ctlgrs886043962
Max Magnitude0
ClinVar
Risk rs886043962(-;-)
Alt rs886043962(-;-)
Reference Rs886043962(C;C)
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.48247526delC
CLNSRC
CLNACC RCV000390542.1,