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rs387907045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907045(C;T)
Make rs387907045(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89631605
GeneKIF7
is asnp
is mentioned by
dbSNPrs387907045
ebirs387907045
HLIrs387907045
Exacrs387907045
Varsomers387907045
Maprs387907045
PheGenIrs387907045
hapmaprs387907045
1000 genomesrs387907045
hgdprs387907045
ensemblrs387907045
gopubmedrs387907045
geneviewrs387907045
scholarrs387907045
googlers387907045
pharmgkbrs387907045
gwascentralrs387907045
openSNPrs387907045
23andMers387907045
23andMe allrs387907045
SNP Nexus

SNPshotrs387907045
SNPdbers387907045
MSV3drs387907045
GWAS Ctlgrs387907045
Max Magnitude0
ClinVar
Risk rs387907045(T;T)
Alt rs387907045(T;T)
Reference rs387907045(C;C)
Significance Pathogenic
Disease Acrocallosal syndrome
Variation info
Gene KIF7
CLNDBN Acrocallosal syndrome, Schinzel type
Reversed 1
HGVS NC_000015.9:g.90174836G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023883.2,