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

rs121909080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909080(A;C)
Make rs121909080(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position128807625
GeneRAB7A
is asnp
is mentioned by
dbSNPrs121909080
ebirs121909080
HLIrs121909080
Exacrs121909080
Varsomers121909080
Maprs121909080
PheGenIrs121909080
hapmaprs121909080
1000 genomesrs121909080
hgdprs121909080
ensemblrs121909080
gopubmedrs121909080
geneviewrs121909080
scholarrs121909080
googlers121909080
pharmgkbrs121909080
gwascentralrs121909080
openSNPrs121909080
23andMers121909080
23andMe allrs121909080
SNP Nexus

SNPshotrs121909080
SNPdbers121909080
MSV3drs121909080
GWAS Ctlgrs121909080
Max Magnitude0
OMIM602298
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909080(C;C)
Alt rs121909080(C;C)
Reference rs121909080(A;A)
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.128526468A>C
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000007772.2, RCV000059223.1,


[PMID 15455439] A novel RAB7 mutation associated with ulcero-mutilating neuropathy.


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