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rs1057516888

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516888(-;-)
Make rs1057516888(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50168547
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs1057516888
dbSNP (old)rs1057516888
ClinGenrs1057516888
ebirs1057516888
HLIrs1057516888
Exacrs1057516888
Gnomadrs1057516888
Varsomers1057516888
Maprs1057516888
PheGenIrs1057516888
Biobankrs1057516888
1000 genomesrs1057516888
hgdprs1057516888
ensemblrs1057516888
gopubmedrs1057516888
geneviewrs1057516888
scholarrs1057516888
googlers1057516888
pharmgkbrs1057516888
gwascentralrs1057516888
openSNPrs1057516888
23andMers1057516888
23andMe allrs1057516888
SNPshotrs1057516888
SNPdbers1057516888
MSV3drs1057516888
GWAS Ctlgrs1057516888
Max Magnitude0
ClinVar
Risk rs1057516888(-;-)
Alt rs1057516888(-;-)
Reference Rs1057516888(C;C)
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.48245908delC
CLNSRC
CLNACC RCV000409089.1,