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rs863224969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224969(C;T)
Make rs863224969(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11996280
GeneMFN2
is asnp
is mentioned by
dbSNPrs863224969
dbSNP (classic)rs863224969
ClinGenrs863224969
ebirs863224969
HLIrs863224969
Exacrs863224969
Gnomadrs863224969
Varsomers863224969
LitVarrs863224969
Maprs863224969
PheGenIrs863224969
Biobankrs863224969
1000 genomesrs863224969
hgdprs863224969
ensemblrs863224969
geneviewrs863224969
scholarrs863224969
googlers863224969
pharmgkbrs863224969
gwascentralrs863224969
openSNPrs863224969
23andMers863224969
SNPshotrs863224969
SNPdbers863224969
MSV3drs863224969
GWAS Ctlgrs863224969
Max Magnitude0
ClinVar
Risk rs863224969(T;T)
Alt rs863224969(T;T)
Reference Rs863224969(C;C)
Significance Probable-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.12056337C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201006.1, RCV000237022.2,