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rs119103263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103263(C;T)
Make rs119103263(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11992659
GeneMFN2
is asnp
is mentioned by
dbSNPrs119103263
ebirs119103263
HLIrs119103263
Exacrs119103263
Varsomers119103263
Maprs119103263
PheGenIrs119103263
hapmaprs119103263
1000 genomesrs119103263
hgdprs119103263
ensemblrs119103263
gopubmedrs119103263
geneviewrs119103263
scholarrs119103263
googlers119103263
pharmgkbrs119103263
gwascentralrs119103263
openSNPrs119103263
23andMers119103263
23andMe allrs119103263
SNP Nexus

SNPshotrs119103263
SNPdbers119103263
MSV3drs119103263
GWAS Ctlgrs119103263
Max Magnitude0
OMIM608507
Desc
Variant0009
Relatedalso
ClinVar
Risk rs119103263(T;T)
Alt rs119103263(T;T)
Reference rs119103263(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease not provided
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2 Hereditary motor and sensory neuropathy with optic atrophy Charcot-Marie-Tooth disease, type 2 not provided
Reversed 0
HGVS NC_000001.10:g.12052716C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002364.6, RCV000190245.2, RCV000199279.1, RCV000200468.3,