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rs119103264

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs119103264(A;G)
Make rs119103264(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position12001411
GeneMFN2
is asnp
is mentioned by
dbSNPrs119103264
ebirs119103264
HLIrs119103264
Exacrs119103264
Varsomers119103264
Maprs119103264
PheGenIrs119103264
hapmaprs119103264
1000 genomesrs119103264
hgdprs119103264
ensemblrs119103264
gopubmedrs119103264
geneviewrs119103264
scholarrs119103264
googlers119103264
pharmgkbrs119103264
gwascentralrs119103264
openSNPrs119103264
23andMers119103264
23andMe allrs119103264
SNP Nexus

SNPshotrs119103264
SNPdbers119103264
MSV3drs119103264
GWAS Ctlgrs119103264
Max Magnitude0
OMIM608507
Desc
Variant0010
Relatedalso
ClinVar
Risk rs119103264(G;G)
Alt rs119103264(G;G)
Reference rs119103264(A;A)
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.12061468A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002366.4,