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rs1057517377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1057517377(-;-)
Make rs1057517377(-;AA)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50170149
GeneSGCA
is asnp
is mentioned by
dbSNPrs1057517377
dbSNP (old)rs1057517377
ClinGenrs1057517377
ebirs1057517377
HLIrs1057517377
Exacrs1057517377
Gnomadrs1057517377
Varsomers1057517377
Maprs1057517377
PheGenIrs1057517377
Biobankrs1057517377
1000 genomesrs1057517377
hgdprs1057517377
ensemblrs1057517377
gopubmedrs1057517377
geneviewrs1057517377
scholarrs1057517377
googlers1057517377
pharmgkbrs1057517377
gwascentralrs1057517377
openSNPrs1057517377
23andMers1057517377
23andMe allrs1057517377
SNPshotrs1057517377
SNPdbers1057517377
MSV3drs1057517377
GWAS Ctlgrs1057517377
Max Magnitude0
ClinVar
Risk rs1057517377(-;-)
Alt rs1057517377(-;-)
Reference Rs1057517377(AA;AA)
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.48247510_48247511delAA
CLNSRC
CLNACC RCV000409217.1,