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rs119103267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103267(C;T)
Make rs119103267(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position12009641
GeneMFN2
is asnp
is mentioned by
dbSNPrs119103267
ebirs119103267
HLIrs119103267
Exacrs119103267
Varsomers119103267
Maprs119103267
PheGenIrs119103267
hapmaprs119103267
1000 genomesrs119103267
hgdprs119103267
ensemblrs119103267
gopubmedrs119103267
geneviewrs119103267
scholarrs119103267
googlers119103267
pharmgkbrs119103267
gwascentralrs119103267
openSNPrs119103267
23andMers119103267
23andMe allrs119103267
SNP Nexus

SNPshotrs119103267
SNPdbers119103267
MSV3drs119103267
GWAS Ctlgrs119103267
GMAF0.0004591
Max Magnitude0
OMIM608507
Desc
Variant0013
Relatedalso
ClinVar
Risk rs119103267(T;T)
Alt rs119103267(T;T)
Reference rs119103267(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2 not provided
Reversed 0
HGVS NC_000001.10:g.12069698C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002369.3, RCV000199654.2,