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rs119103265

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103265(C;T)
Make rs119103265(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position12002033
GeneMFN2
is asnp
is mentioned by
dbSNPrs119103265
ebirs119103265
HLIrs119103265
Exacrs119103265
Varsomers119103265
Maprs119103265
PheGenIrs119103265
hapmaprs119103265
1000 genomesrs119103265
hgdprs119103265
ensemblrs119103265
gopubmedrs119103265
geneviewrs119103265
scholarrs119103265
googlers119103265
pharmgkbrs119103265
gwascentralrs119103265
openSNPrs119103265
23andMers119103265
23andMe allrs119103265
SNP Nexus

SNPshotrs119103265
SNPdbers119103265
MSV3drs119103265
GWAS Ctlgrs119103265
Max Magnitude0
OMIM608507
Desc
Variant0011
Relatedalso
ClinVar
Risk rs119103265(T;T)
Alt rs119103265(T;T)
Reference rs119103265(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, type 2 not provided
Reversed 0
HGVS NC_000001.10:g.12062090C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002367.4, RCV000023711.6, RCV000195560.2, RCV000198024.2,