Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909079(A;A)
Make rs121909079(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position128807627
GeneRAB7A
is asnp
is mentioned by
dbSNPrs121909079
ebirs121909079
HLIrs121909079
Exacrs121909079
Varsomers121909079
Maprs121909079
PheGenIrs121909079
hapmaprs121909079
1000 genomesrs121909079
hgdprs121909079
ensemblrs121909079
gopubmedrs121909079
geneviewrs121909079
scholarrs121909079
googlers121909079
pharmgkbrs121909079
gwascentralrs121909079
openSNPrs121909079
23andMers121909079
23andMe allrs121909079
SNP Nexus

SNPshotrs121909079
SNPdbers121909079
MSV3drs121909079
GWAS Ctlgrs121909079
Max Magnitude0
OMIM602298
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909079(A;A)
Alt rs121909079(A;A)
Reference rs121909079(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.128526470G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007771.3, RCV000059224.1,


[PMID 12545426OA-icon.png] Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.


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