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rs387906990

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906990(C;C)
Make rs387906990(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11998817
GeneMFN2
is asnp
is mentioned by
dbSNPrs387906990
ebirs387906990
HLIrs387906990
Exacrs387906990
Varsomers387906990
Maprs387906990
PheGenIrs387906990
hapmaprs387906990
1000 genomesrs387906990
hgdprs387906990
ensemblrs387906990
gopubmedrs387906990
geneviewrs387906990
scholarrs387906990
googlers387906990
pharmgkbrs387906990
gwascentralrs387906990
openSNPrs387906990
23andMers387906990
23andMe allrs387906990
SNP Nexus

SNPshotrs387906990
SNPdbers387906990
MSV3drs387906990
GWAS Ctlgrs387906990
Max Magnitude0
ClinVar
Risk rs387906990(C;C)
Alt rs387906990(C;C)
Reference rs387906990(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2A2, autosomal recessive not provided
Reversed 0
HGVS NC_000001.10:g.12058874T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023714.3, RCV000235670.1,