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rs28940294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28940294(A;A)
Make rs28940294(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position12001423
GeneMFN2
is asnp
is mentioned by
dbSNPrs28940294
ebirs28940294
HLIrs28940294
Exacrs28940294
Varsomers28940294
Maprs28940294
PheGenIrs28940294
hapmaprs28940294
1000 genomesrs28940294
hgdprs28940294
ensemblrs28940294
gopubmedrs28940294
geneviewrs28940294
scholarrs28940294
googlers28940294
pharmgkbrs28940294
gwascentralrs28940294
openSNPrs28940294
23andMers28940294
23andMe allrs28940294
SNP Nexus

SNPshotrs28940294
SNPdbers28940294
MSV3drs28940294
GWAS Ctlgrs28940294
Max Magnitude0
OMIM608507
DescCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant0004
Relatedalso


ClinVar
Risk rs28940294(A;A)
Alt rs28940294(A;A)
Reference rs28940294(G;G)
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.12061480G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002359.4, RCV000236600.1,