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rs387906991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906991(C;T)
Make rs387906991(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position12002028
GeneMFN2
is asnp
is mentioned by
dbSNPrs387906991
ebirs387906991
HLIrs387906991
Exacrs387906991
Varsomers387906991
Maprs387906991
PheGenIrs387906991
hapmaprs387906991
1000 genomesrs387906991
hgdprs387906991
ensemblrs387906991
gopubmedrs387906991
geneviewrs387906991
scholarrs387906991
googlers387906991
pharmgkbrs387906991
gwascentralrs387906991
openSNPrs387906991
23andMers387906991
23andMe allrs387906991
SNP Nexus

SNPshotrs387906991
SNPdbers387906991
MSV3drs387906991
GWAS Ctlgrs387906991
Max Magnitude0
ClinVar
Risk rs387906991(T;T)
Alt rs387906991(T;T)
Reference rs387906991(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene MFN2
CLNDBN Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, axonal, type 2A2, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.12062085C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023716.3, RCV000023717.3,