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rs863224968

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224968(A;A)
Make rs863224968(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position12011547
GeneMFN2
is asnp
is mentioned by
dbSNPrs863224968
dbSNP (classic)rs863224968
ClinGenrs863224968
ebirs863224968
HLIrs863224968
Exacrs863224968
Gnomadrs863224968
Varsomers863224968
LitVarrs863224968
Maprs863224968
PheGenIrs863224968
Biobankrs863224968
1000 genomesrs863224968
hgdprs863224968
ensemblrs863224968
geneviewrs863224968
scholarrs863224968
googlers863224968
pharmgkbrs863224968
gwascentralrs863224968
openSNPrs863224968
23andMers863224968
SNPshotrs863224968
SNPdbers863224968
MSV3drs863224968
GWAS Ctlgrs863224968
Max Magnitude0
ClinVar
Risk rs863224968(A;A) rs863224968(G;G)
Alt rs863224968(A;A) rs863224968(G;G)
Reference Rs863224968(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000001.10:g.12071604C>A; NC_000001.10:g.12071604C>G
CLNSRC Quest Diagnostics
CLNACC RCV000201055.1, RCV000231193.1,