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rs756614404

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs756614404(A;A)
Make rs756614404(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position219282062
GeneDNAJB2
is asnp
is mentioned by
dbSNPrs756614404
ebirs756614404
HLIrs756614404
Exacrs756614404
Varsomers756614404
Maprs756614404
PheGenIrs756614404
hapmaprs756614404
1000 genomesrs756614404
hgdprs756614404
ensemblrs756614404
gopubmedrs756614404
geneviewrs756614404
scholarrs756614404
googlers756614404
pharmgkbrs756614404
gwascentralrs756614404
openSNPrs756614404
23andMers756614404
23andMe allrs756614404
SNP Nexus

SNPshotrs756614404
SNPdbers756614404
MSV3drs756614404
GWAS Ctlgrs756614404
Max Magnitude0
ClinVar
Risk rs756614404(A;A)
Alt rs756614404(A;A)
Reference rs756614404(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.220146784G>A
CLNSRC
CLNACC RCV000201941.1,