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rs139382018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139382018(G;T)
Make rs139382018(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position54455810
GeneHSPB3
is asnp
is mentioned by
dbSNPrs139382018
ebirs139382018
HLIrs139382018
Exacrs139382018
Varsomers139382018
Maprs139382018
PheGenIrs139382018
hapmaprs139382018
1000 genomesrs139382018
hgdprs139382018
ensemblrs139382018
gopubmedrs139382018
geneviewrs139382018
scholarrs139382018
googlers139382018
pharmgkbrs139382018
gwascentralrs139382018
openSNPrs139382018
23andMers139382018
23andMe allrs139382018
SNP Nexus

SNPshotrs139382018
SNPdbers139382018
MSV3drs139382018
GWAS Ctlgrs139382018
Max Magnitude0
ClinVar
Risk rs139382018(T;T)
Alt rs139382018(T;T)
Reference rs139382018(G;G)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy type 2C
Variation info
Gene HSPB3
CLNDBN Distal hereditary motor neuronopathy type 2C
Reversed 0
HGVS NC_000005.9:g.53751640G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005762.3,