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rs138382758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138382758(A;A)
Make rs138382758(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position12004835
GeneMFN2
is asnp
is mentioned by
dbSNPrs138382758
ebirs138382758
HLIrs138382758
Exacrs138382758
Varsomers138382758
Maprs138382758
PheGenIrs138382758
hapmaprs138382758
1000 genomesrs138382758
hgdprs138382758
ensemblrs138382758
gopubmedrs138382758
geneviewrs138382758
scholarrs138382758
googlers138382758
pharmgkbrs138382758
gwascentralrs138382758
openSNPrs138382758
23andMers138382758
23andMe allrs138382758
SNP Nexus

SNPshotrs138382758
SNPdbers138382758
MSV3drs138382758
GWAS Ctlgrs138382758
GMAF0.002755
Max Magnitude0
ClinVar
Risk rs138382758(A;A)
Alt rs138382758(A;A)
Reference rs138382758(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not specified Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2 not specified Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000001.10:g.12064892G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002372.3, RCV000196650.1, RCV000229623.1,