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rs370819630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs370819630(A;G)
Make rs370819630(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position50167731
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs370819630
dbSNP (classic)rs370819630
ClinGenrs370819630
ebirs370819630
HLIrs370819630
Exacrs370819630
Gnomadrs370819630
Varsomers370819630
LitVarrs370819630
Maprs370819630
PheGenIrs370819630
Biobankrs370819630
1000 genomesrs370819630
hgdprs370819630
ensemblrs370819630
geneviewrs370819630
scholarrs370819630
googlers370819630
pharmgkbrs370819630
gwascentralrs370819630
openSNPrs370819630
23andMers370819630
23andMe allrs370819630
SNPshotrs370819630
SNPdbers370819630
MSV3drs370819630
GWAS Ctlgrs370819630
Max Magnitude0
ClinVar
Risk rs370819630(G;G)
Alt rs370819630(G;G)
Reference Rs370819630(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.48245092A>G
CLNSRC
CLNACC RCV000277867.1,