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rs1057516548

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516548(-;-)
Make rs1057516548(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50170150
GeneSGCA
is asnp
is mentioned by
dbSNPrs1057516548
dbSNP (old)rs1057516548
ClinGenrs1057516548
ebirs1057516548
HLIrs1057516548
Exacrs1057516548
Gnomadrs1057516548
Varsomers1057516548
Maprs1057516548
PheGenIrs1057516548
Biobankrs1057516548
1000 genomesrs1057516548
hgdprs1057516548
ensemblrs1057516548
gopubmedrs1057516548
geneviewrs1057516548
scholarrs1057516548
googlers1057516548
pharmgkbrs1057516548
gwascentralrs1057516548
openSNPrs1057516548
23andMers1057516548
23andMe allrs1057516548
SNPshotrs1057516548
SNPdbers1057516548
MSV3drs1057516548
GWAS Ctlgrs1057516548
Max Magnitude0
ClinVar
Risk rs1057516548(-;-)
Alt rs1057516548(-;-)
Reference Rs1057516548(A;A)
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.48247511delA
CLNSRC
CLNACC RCV000410962.1,