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rs387907037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907037(C;C)
Make rs387907037(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position104701748
GeneINF2
is asnp
is mentioned by
dbSNPrs387907037
dbSNP (classic)rs387907037
ClinGenrs387907037
ebirs387907037
HLIrs387907037
Exacrs387907037
Gnomadrs387907037
Varsomers387907037
LitVarrs387907037
Maprs387907037
PheGenIrs387907037
Biobankrs387907037
1000 genomesrs387907037
hgdprs387907037
ensemblrs387907037
geneviewrs387907037
scholarrs387907037
googlers387907037
pharmgkbrs387907037
gwascentralrs387907037
openSNPrs387907037
23andMers387907037
SNPshotrs387907037
SNPdbers387907037
MSV3drs387907037
GWAS Ctlgrs387907037
Max Magnitude0
ClinVar
Risk rs387907037(C;C)
Alt rs387907037(C;C)
Reference Rs387907037(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene INF2
CLNDBN Charcot-Marie-Tooth disease, dominant intermediate E not provided
Reversed 0
HGVS NC_000014.8:g.105168085T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023852.2, RCV000235466.1,