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rs121909081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909081(C;C)
Make rs121909081(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position128807614
GeneRAB7A
is asnp
is mentioned by
dbSNPrs121909081
ebirs121909081
HLIrs121909081
Exacrs121909081
Varsomers121909081
Maprs121909081
PheGenIrs121909081
hapmaprs121909081
1000 genomesrs121909081
hgdprs121909081
ensemblrs121909081
gopubmedrs121909081
geneviewrs121909081
scholarrs121909081
googlers121909081
pharmgkbrs121909081
gwascentralrs121909081
openSNPrs121909081
23andMers121909081
23andMe allrs121909081
SNP Nexus

SNPshotrs121909081
SNPdbers121909081
MSV3drs121909081
GWAS Ctlgrs121909081
Max Magnitude0
OMIM602298
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909081(C;C)
Alt rs121909081(C;C)
Reference rs121909081(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene RAB7A
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2b not provided
Reversed 0
HGVS NC_000003.11:g.128526457G>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007773.3, RCV000059222.1,


[PMID 17060578] Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.


[PMID 21151572OA-icon.png] Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.