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rs886044516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome17
Position50167585
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs886044516
dbSNP (classic)rs886044516
ClinGenrs886044516
ebirs886044516
HLIrs886044516
Exacrs886044516
Gnomadrs886044516
Varsomers886044516
LitVarrs886044516
Maprs886044516
PheGenIrs886044516
Biobankrs886044516
1000 genomesrs886044516
hgdprs886044516
ensemblrs886044516
geneviewrs886044516
scholarrs886044516
googlers886044516
pharmgkbrs886044516
gwascentralrs886044516
openSNPrs886044516
23andMers886044516
23andMe allrs886044516
SNPshotrs886044516
SNPdbers886044516
MSV3drs886044516
GWAS Ctlgrs886044516
Max Magnitude0
ClinVar
Risk rs886044516(-;-)
Alt rs886044516(-;-)
Reference Rs886044516(T;T)
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.48244946delT
CLNSRC
CLNACC RCV000343707.1,