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rs863224069

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224069(C;T)
Make rs863224069(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11996158
GeneMFN2
is asnp
is mentioned by
dbSNPrs863224069
dbSNP (old)rs863224069
ClinGenrs863224069
ebirs863224069
HLIrs863224069
Exacrs863224069
Gnomadrs863224069
Varsomers863224069
Maprs863224069
PheGenIrs863224069
Biobankrs863224069
1000 genomesrs863224069
hgdprs863224069
ensemblrs863224069
gopubmedrs863224069
geneviewrs863224069
scholarrs863224069
googlers863224069
pharmgkbrs863224069
gwascentralrs863224069
openSNPrs863224069
23andMers863224069
23andMe allrs863224069
SNP Nexus

SNPshotrs863224069
SNPdbers863224069
MSV3drs863224069
GWAS Ctlgrs863224069
Max Magnitude0
ClinVar
Risk rs863224069(T;T)
Alt rs863224069(T;T)
Reference Rs863224069(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.12056215C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201133.1, RCV000462918.1,