Have questions? Visit https://www.reddit.com/r/SNPedia

rs371675217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs371675217(A;A)
Make rs371675217(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50167431
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs371675217
dbSNP (classic)rs371675217
ClinGenrs371675217
ebirs371675217
HLIrs371675217
Exacrs371675217
Gnomadrs371675217
Varsomers371675217
LitVarrs371675217
Maprs371675217
PheGenIrs371675217
Biobankrs371675217
1000 genomesrs371675217
hgdprs371675217
ensemblrs371675217
geneviewrs371675217
scholarrs371675217
googlers371675217
pharmgkbrs371675217
gwascentralrs371675217
openSNPrs371675217
23andMers371675217
SNPshotrs371675217
SNPdbers371675217
MSV3drs371675217
GWAS Ctlgrs371675217
Max Magnitude0
ClinVar
Risk rs371675217(A;A)
Alt rs371675217(A;A)
Reference Rs371675217(G;G)
Significance Other
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN not provided Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48244792G>A
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000077936.3, RCV000169164.4,