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rs104894020

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894020(C;T)
Make rs104894020(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position76304099
GeneHSPB1
is asnp
is mentioned by
dbSNPrs104894020
ebirs104894020
HLIrs104894020
Exacrs104894020
Varsomers104894020
Maprs104894020
PheGenIrs104894020
hapmaprs104894020
1000 genomesrs104894020
hgdprs104894020
ensemblrs104894020
gopubmedrs104894020
geneviewrs104894020
scholarrs104894020
googlers104894020
pharmgkbrs104894020
gwascentralrs104894020
openSNPrs104894020
23andMers104894020
23andMe allrs104894020
SNP Nexus

SNPshotrs104894020
SNPdbers104894020
MSV3drs104894020
GWAS Ctlgrs104894020
Max Magnitude0
OMIM602195
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894020(T;T)
Alt rs104894020(T;T)
Reference rs104894020(C;C)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy type 2B
Variation info
Gene HSPB1
CLNDBN Distal hereditary motor neuronopathy type 2B
Reversed 0
HGVS NC_000007.13:g.75933416C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007911.2,