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rs1057517142

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057517142(-;-)
Make rs1057517142(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50168468
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs1057517142
dbSNP (old)rs1057517142
ClinGenrs1057517142
ebirs1057517142
HLIrs1057517142
Exacrs1057517142
Gnomadrs1057517142
Varsomers1057517142
Maprs1057517142
PheGenIrs1057517142
Biobankrs1057517142
1000 genomesrs1057517142
hgdprs1057517142
ensemblrs1057517142
gopubmedrs1057517142
geneviewrs1057517142
scholarrs1057517142
googlers1057517142
pharmgkbrs1057517142
gwascentralrs1057517142
openSNPrs1057517142
23andMers1057517142
23andMe allrs1057517142
SNPshotrs1057517142
SNPdbers1057517142
MSV3drs1057517142
GWAS Ctlgrs1057517142
Max Magnitude0
ClinVar
Risk rs1057517142(-;-)
Alt rs1057517142(-;-)
Reference Rs1057517142(CT;CT)
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.48245829_48245830delCT
CLNSRC
CLNACC RCV000412176.1,