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rs28940291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28940291(A;A)
Make rs28940291(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11992660
GeneMFN2
is asnp
is mentioned by
dbSNPrs28940291
ebirs28940291
HLIrs28940291
Exacrs28940291
Varsomers28940291
Maprs28940291
PheGenIrs28940291
hapmaprs28940291
1000 genomesrs28940291
hgdprs28940291
ensemblrs28940291
gopubmedrs28940291
geneviewrs28940291
scholarrs28940291
googlers28940291
pharmgkbrs28940291
gwascentralrs28940291
openSNPrs28940291
23andMers28940291
23andMe allrs28940291
SNP Nexus

SNPshotrs28940291
SNPdbers28940291
MSV3drs28940291
GWAS Ctlgrs28940291
Max Magnitude0
OMIM608507
DescCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant0001
Relatedalso
Neighborrs28940293
Distance54


ClinVar
Risk rs28940291(A;A)
Alt rs28940291(A;A)
Reference rs28940291(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2
Reversed 0
HGVS NC_000001.10:g.12052717G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002356.3,