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rs863224967

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224967(A;G)
Make rs863224967(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position12002069
GeneMFN2
is asnp
is mentioned by
dbSNPrs863224967
ebirs863224967
HLIrs863224967
Exacrs863224967
Varsomers863224967
Maprs863224967
PheGenIrs863224967
hapmaprs863224967
1000 genomesrs863224967
hgdprs863224967
ensemblrs863224967
gopubmedrs863224967
geneviewrs863224967
scholarrs863224967
googlers863224967
pharmgkbrs863224967
gwascentralrs863224967
openSNPrs863224967
23andMers863224967
23andMe allrs863224967
SNP Nexus

SNPshotrs863224967
SNPdbers863224967
MSV3drs863224967
GWAS Ctlgrs863224967
Max Magnitude0
ClinVar
Risk rs863224967(G;G)
Alt rs863224967(G;G)
Reference rs863224967(A;A)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2
Reversed 0
HGVS NC_000001.10:g.12062126A>G
CLNSRC Quest Diagnostics
CLNACC RCV000201123.1,