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rs119103266

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103266(C;T)
Make rs119103266(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11998787
GeneMFN2
is asnp
is mentioned by
dbSNPrs119103266
ebirs119103266
HLIrs119103266
Exacrs119103266
Varsomers119103266
Maprs119103266
PheGenIrs119103266
hapmaprs119103266
1000 genomesrs119103266
hgdprs119103266
ensemblrs119103266
gopubmedrs119103266
geneviewrs119103266
scholarrs119103266
googlers119103266
pharmgkbrs119103266
gwascentralrs119103266
openSNPrs119103266
23andMers119103266
23andMe allrs119103266
SNP Nexus

SNPshotrs119103266
SNPdbers119103266
MSV3drs119103266
GWAS Ctlgrs119103266
Max Magnitude0
OMIM608507
Desc
Variant0012
Relatedalso
ClinVar
Risk rs119103266(T;T)
Alt rs119103266(T;T)
Reference rs119103266(C;C)
Significance Pathogenic
Disease Hereditary motor and sensory neuropathy with optic atrophy
Variation info
Gene MFN2
CLNDBN Hereditary motor and sensory neuropathy with optic atrophy
Reversed 0
HGVS NC_000001.10:g.12058844C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002368.4,