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rs794729198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729198(C;T)
Make rs794729198(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11999025
GeneMFN2
is asnp
is mentioned by
dbSNPrs794729198
dbSNP (classic)rs794729198
ClinGenrs794729198
ebirs794729198
HLIrs794729198
Exacrs794729198
Gnomadrs794729198
Varsomers794729198
LitVarrs794729198
Maprs794729198
PheGenIrs794729198
Biobankrs794729198
1000 genomesrs794729198
hgdprs794729198
ensemblrs794729198
geneviewrs794729198
scholarrs794729198
googlers794729198
pharmgkbrs794729198
gwascentralrs794729198
openSNPrs794729198
23andMers794729198
SNPshotrs794729198
SNPdbers794729198
MSV3drs794729198
GWAS Ctlgrs794729198
Max Magnitude0
ClinVar
Risk rs794729198(T;T)
Alt rs794729198(T;T)
Reference Rs794729198(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2
Reversed 0
HGVS NC_000001.10:g.12059082C>T
CLNSRC
CLNACC RCV000184017.1,