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rs886043392

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome17
Position50169255
GeneSGCA
is asnp
is mentioned by
dbSNPrs886043392
dbSNP (classic)rs886043392
ClinGenrs886043392
ebirs886043392
HLIrs886043392
Exacrs886043392
Gnomadrs886043392
Varsomers886043392
LitVarrs886043392
Maprs886043392
PheGenIrs886043392
Biobankrs886043392
1000 genomesrs886043392
hgdprs886043392
ensemblrs886043392
geneviewrs886043392
scholarrs886043392
googlers886043392
pharmgkbrs886043392
gwascentralrs886043392
openSNPrs886043392
23andMers886043392
23andMe allrs886043392
SNPshotrs886043392
SNPdbers886043392
MSV3drs886043392
GWAS Ctlgrs886043392
Max Magnitude0
ClinVar
Risk rs886043392(A;A)
Alt rs886043392(A;A)
Reference Rs886043392(G;G)
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.48246616G>A
CLNSRC
CLNACC RCV000301700.1,