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rs121909113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909113(A;A)
Make rs121909113(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position76303007
GeneHSPB1
is asnp
is mentioned by
dbSNPrs121909113
ebirs121909113
HLIrs121909113
Exacrs121909113
Varsomers121909113
Maprs121909113
PheGenIrs121909113
hapmaprs121909113
1000 genomesrs121909113
hgdprs121909113
ensemblrs121909113
gopubmedrs121909113
geneviewrs121909113
scholarrs121909113
googlers121909113
pharmgkbrs121909113
gwascentralrs121909113
openSNPrs121909113
23andMers121909113
23andMe allrs121909113
SNP Nexus

SNPshotrs121909113
SNPdbers121909113
MSV3drs121909113
GWAS Ctlgrs121909113
Max Magnitude0
OMIM602195
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909113(A;A)
Alt rs121909113(A;A)
Reference rs121909113(C;C)
Significance Probable-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.75932324C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007913.1,