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rs730882139

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730882139(A;A)
Make rs730882139(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219281772
GeneDNAJB2
is asnp
is mentioned by
dbSNPrs730882139
ebirs730882139
HLIrs730882139
Exacrs730882139
Varsomers730882139
Maprs730882139
PheGenIrs730882139
hapmaprs730882139
1000 genomesrs730882139
hgdprs730882139
ensemblrs730882139
gopubmedrs730882139
geneviewrs730882139
scholarrs730882139
googlers730882139
pharmgkbrs730882139
gwascentralrs730882139
openSNPrs730882139
23andMers730882139
23andMe allrs730882139
SNP Nexus

SNPshotrs730882139
SNPdbers730882139
MSV3drs730882139
GWAS Ctlgrs730882139
Max Magnitude0
ClinVar
Risk rs730882139(A;A)
Alt rs730882139(A;A)
Reference rs730882139(G;G)
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.220146494G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000161908.3, RCV000192265.1,