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rs28940293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs28940293(C;C)
Make rs28940293(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11992606
GeneMFN2
is asnp
is mentioned by
dbSNPrs28940293
ebirs28940293
HLIrs28940293
Exacrs28940293
Varsomers28940293
Maprs28940293
PheGenIrs28940293
hapmaprs28940293
1000 genomesrs28940293
hgdprs28940293
ensemblrs28940293
gopubmedrs28940293
geneviewrs28940293
scholarrs28940293
googlers28940293
pharmgkbrs28940293
gwascentralrs28940293
openSNPrs28940293
23andMers28940293
23andMe allrs28940293
SNP Nexus

SNPshotrs28940293
SNPdbers28940293
MSV3drs28940293
GWAS Ctlgrs28940293
Max Magnitude0
OMIM608507
DescCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant0003
Relatedalso
Neighborrs28940296
Distance22
Neighborrs28940291
Distance54
ClinVar
Risk rs28940293(C,G;C,G)
Alt rs28940293(C,G;C,G)
Reference rs28940293(T;T)
Significance 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.12052663T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002358.3, RCV000200837.2,