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rs372210292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs372210292(A;A)
Make rs372210292(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position50168397
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs372210292
dbSNP (classic)rs372210292
ClinGenrs372210292
ebirs372210292
HLIrs372210292
Exacrs372210292
Gnomadrs372210292
Varsomers372210292
LitVarrs372210292
Maprs372210292
PheGenIrs372210292
Biobankrs372210292
1000 genomesrs372210292
hgdprs372210292
ensemblrs372210292
geneviewrs372210292
scholarrs372210292
googlers372210292
pharmgkbrs372210292
gwascentralrs372210292
openSNPrs372210292
23andMers372210292
23andMe allrs372210292
SNPshotrs372210292
SNPdbers372210292
MSV3drs372210292
GWAS Ctlgrs372210292
Max Magnitude0
ClinVar
Risk rs372210292(A;A)
Alt rs372210292(A;A)
Reference Rs372210292(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48245758G>A
CLNSRC
CLNACC RCV000341255.1,