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rs121909112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909112(C;G)
Make rs121909112(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position76303855
GeneHSPB1
is asnp
is mentioned by
dbSNPrs121909112
ebirs121909112
HLIrs121909112
Exacrs121909112
Varsomers121909112
Maprs121909112
PheGenIrs121909112
hapmaprs121909112
1000 genomesrs121909112
hgdprs121909112
ensemblrs121909112
gopubmedrs121909112
geneviewrs121909112
scholarrs121909112
googlers121909112
pharmgkbrs121909112
gwascentralrs121909112
openSNPrs121909112
23andMers121909112
23andMe allrs121909112
SNP Nexus

SNPshotrs121909112
SNPdbers121909112
MSV3drs121909112
GWAS Ctlgrs121909112
Max Magnitude0
OMIM602195
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909112(G;G)
Alt rs121909112(G;G)
Reference rs121909112(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.75933172C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007912.3,