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rs28940295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28940295(C;G)
Make rs28940295(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position11999030
GeneMFN2
is asnp
is mentioned by
dbSNPrs28940295
ebirs28940295
HLIrs28940295
Exacrs28940295
Varsomers28940295
Maprs28940295
PheGenIrs28940295
hapmaprs28940295
1000 genomesrs28940295
hgdprs28940295
ensemblrs28940295
gopubmedrs28940295
geneviewrs28940295
scholarrs28940295
googlers28940295
pharmgkbrs28940295
gwascentralrs28940295
openSNPrs28940295
23andMers28940295
23andMe allrs28940295
SNP Nexus

SNPshotrs28940295
SNPdbers28940295
MSV3drs28940295
GWAS Ctlgrs28940295
Max Magnitude0
OMIM608507
DescCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant0005
Relatedalso


ClinVar
Risk rs28940295(G;G)
Alt rs28940295(G;G)
Reference rs28940295(C;C)
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.12059087C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002360.2,