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rs28940292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28940292(C;C)
Make rs28940292(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position12011510
GeneMFN2
is asnp
is mentioned by
dbSNPrs28940292
ebirs28940292
HLIrs28940292
Exacrs28940292
Varsomers28940292
Maprs28940292
PheGenIrs28940292
hapmaprs28940292
1000 genomesrs28940292
hgdprs28940292
ensemblrs28940292
gopubmedrs28940292
geneviewrs28940292
scholarrs28940292
googlers28940292
pharmgkbrs28940292
gwascentralrs28940292
openSNPrs28940292
23andMers28940292
23andMe allrs28940292
SNP Nexus

SNPshotrs28940292
SNPdbers28940292
MSV3drs28940292
GWAS Ctlgrs28940292
Max Magnitude0
OMIM608507
DescCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2
Variant0002
Relatedalso
ClinVar
Risk rs28940292(C;C)
Alt rs28940292(C;C)
Reference rs28940292(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, type 2 not provided
Reversed 0
HGVS NC_000001.10:g.12071567G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002357.4, RCV000197403.3, RCV000235811.1,