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rs764813110

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764813110(A;A)
Make rs764813110(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position219284631
GeneDNAJB2
is asnp
is mentioned by
dbSNPrs764813110
ebirs764813110
HLIrs764813110
Exacrs764813110
Varsomers764813110
Maprs764813110
PheGenIrs764813110
hapmaprs764813110
1000 genomesrs764813110
hgdprs764813110
ensemblrs764813110
gopubmedrs764813110
geneviewrs764813110
scholarrs764813110
googlers764813110
pharmgkbrs764813110
gwascentralrs764813110
openSNPrs764813110
23andMers764813110
23andMe allrs764813110
SNP Nexus

SNPshotrs764813110
SNPdbers764813110
MSV3drs764813110
GWAS Ctlgrs764813110
Max Magnitude0
ClinVar
Risk rs764813110(A;A)
Alt rs764813110(A;A)
Reference rs764813110(G;G)
Significance Pathogenic
Disease Spinal muscular atrophy
Variation info
Gene DNAJB2
CLNDBN Spinal muscular atrophy, distal, autosomal recessive, 5
Reversed 0
HGVS NC_000002.11:g.220149353G>A
CLNSRC
CLNACC RCV000235055.1,