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rs753650776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs753650776(-;-)
Make rs753650776(-;A)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position50168477
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs753650776
dbSNP (classic)rs753650776
ClinGenrs753650776
ebirs753650776
HLIrs753650776
Exacrs753650776
Gnomadrs753650776
Varsomers753650776
LitVarrs753650776
Maprs753650776
PheGenIrs753650776
Biobankrs753650776
1000 genomesrs753650776
hgdprs753650776
ensemblrs753650776
geneviewrs753650776
scholarrs753650776
googlers753650776
pharmgkbrs753650776
gwascentralrs753650776
openSNPrs753650776
23andMers753650776
23andMe allrs753650776
SNPshotrs753650776
SNPdbers753650776
MSV3drs753650776
GWAS Ctlgrs753650776
Max Magnitude0
ClinVar
Risk rs753650776(-;-)
Alt rs753650776(-;-)
Reference Rs753650776(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.48245838delA
CLNSRC
CLNACC RCV000411266.1,