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rs730882140

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882140(A;G)
Make rs730882140(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219279847
GeneDNAJB2
is asnp
is mentioned by
dbSNPrs730882140
ebirs730882140
HLIrs730882140
Exacrs730882140
Varsomers730882140
Maprs730882140
PheGenIrs730882140
hapmaprs730882140
1000 genomesrs730882140
hgdprs730882140
ensemblrs730882140
gopubmedrs730882140
geneviewrs730882140
scholarrs730882140
googlers730882140
pharmgkbrs730882140
gwascentralrs730882140
openSNPrs730882140
23andMers730882140
23andMe allrs730882140
SNP Nexus

SNPshotrs730882140
SNPdbers730882140
MSV3drs730882140
GWAS Ctlgrs730882140
Max Magnitude0
ClinVar
Risk rs730882140(G;G)
Alt rs730882140(G;G)
Reference rs730882140(A;A)
Significance Pathogenic
Disease Spinal muscular atrophy Charcot-Marie-Tooth disease
Variation info
Gene DNAJB2
CLNDBN Spinal muscular atrophy, distal, autosomal recessive, 5 Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000002.11:g.220144569A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000161909.4, RCV000192266.1,