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rs138945081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138945081(C;T)
Make rs138945081(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position50167716
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs138945081
dbSNP (old)rs138945081
ClinGenrs138945081
ebirs138945081
HLIrs138945081
Exacrs138945081
Gnomadrs138945081
Varsomers138945081
Maprs138945081
PheGenIrs138945081
Biobankrs138945081
1000 genomesrs138945081
hgdprs138945081
ensemblrs138945081
gopubmedrs138945081
geneviewrs138945081
scholarrs138945081
googlers138945081
pharmgkbrs138945081
gwascentralrs138945081
openSNPrs138945081
23andMers138945081
23andMe allrs138945081
SNPshotrs138945081
SNPdbers138945081
MSV3drs138945081
GWAS Ctlgrs138945081
Max Magnitude0
ClinVar
Risk rs138945081(T;T)
Alt rs138945081(T;T)
Reference Rs138945081(C;C)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D not provided
Reversed 0
HGVS NC_000017.10:g.48245077C>T
CLNSRC
CLNACC RCV000309945.1, RCV000485521.1,