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rs104894351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894351(A;G)
Make rs104894351(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position119187078
GeneHSPB8
is asnp
is mentioned by
dbSNPrs104894351
ebirs104894351
HLIrs104894351
Exacrs104894351
Varsomers104894351
Maprs104894351
PheGenIrs104894351
hapmaprs104894351
1000 genomesrs104894351
hgdprs104894351
ensemblrs104894351
gopubmedrs104894351
geneviewrs104894351
scholarrs104894351
googlers104894351
pharmgkbrs104894351
gwascentralrs104894351
openSNPrs104894351
23andMers104894351
23andMe allrs104894351
SNP Nexus

SNPshotrs104894351
SNPdbers104894351
MSV3drs104894351
GWAS Ctlgrs104894351
Max Magnitude0
OMIM608014
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894351(G;G)
Alt rs104894351(G;G)
Reference rs104894351(A;A)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy type 2A Charcot-Marie-Tooth disease
Variation info
Gene HSPB8
CLNDBN Distal hereditary motor neuronopathy type 2A Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000012.11:g.119624883A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002736.2, RCV000192252.1,