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rs1057516729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057516729(AG;T)
Make rs1057516729(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50170241
GeneSGCA
is asnp
is mentioned by
dbSNPrs1057516729
dbSNP (old)rs1057516729
ClinGenrs1057516729
ebirs1057516729
HLIrs1057516729
Exacrs1057516729
Gnomadrs1057516729
Varsomers1057516729
LitVarrs1057516729
Maprs1057516729
PheGenIrs1057516729
Biobankrs1057516729
1000 genomesrs1057516729
hgdprs1057516729
ensemblrs1057516729
gopubmedrs1057516729
geneviewrs1057516729
scholarrs1057516729
googlers1057516729
pharmgkbrs1057516729
gwascentralrs1057516729
openSNPrs1057516729
23andMers1057516729
23andMe allrs1057516729
SNPshotrs1057516729
SNPdbers1057516729
MSV3drs1057516729
GWAS Ctlgrs1057516729
Max Magnitude0
ClinVar
Risk rs1057516729(T;T)
Alt rs1057516729(T;T)
Reference Rs1057516729(AG;AG)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48247602_48247603delAGinsT
CLNSRC
CLNACC RCV000411428.1,