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rs119103268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103268(C;T)
Make rs119103268(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11992689
GeneMFN2
is asnp
is mentioned by
dbSNPrs119103268
ebirs119103268
HLIrs119103268
Exacrs119103268
Varsomers119103268
Maprs119103268
PheGenIrs119103268
hapmaprs119103268
1000 genomesrs119103268
hgdprs119103268
ensemblrs119103268
gopubmedrs119103268
geneviewrs119103268
scholarrs119103268
googlers119103268
pharmgkbrs119103268
gwascentralrs119103268
openSNPrs119103268
23andMers119103268
23andMe allrs119103268
SNP Nexus

SNPshotrs119103268
SNPdbers119103268
MSV3drs119103268
GWAS Ctlgrs119103268
Max Magnitude0
OMIM608507
Desc
Variant0014
Relatedalso
ClinVar
Risk rs119103268(T;T)
Alt rs119103268(T;T)
Reference rs119103268(C;C)
Significance Pathogenic
Disease Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation info
Gene MFN2
CLNDBN Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease not provided
Reversed 0
HGVS NC_000001.10:g.12052746C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002370.4, RCV000002371.5, RCV000144872.1, RCV000197230.2,