Have questions? Visit https://www.reddit.com/r/SNPedia

rs387907044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907044(C;T)
Make rs387907044(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position89649810
GeneKIF7
is asnp
is mentioned by
dbSNPrs387907044
ebirs387907044
HLIrs387907044
Exacrs387907044
Varsomers387907044
Maprs387907044
PheGenIrs387907044
hapmaprs387907044
1000 genomesrs387907044
hgdprs387907044
ensemblrs387907044
gopubmedrs387907044
geneviewrs387907044
scholarrs387907044
googlers387907044
pharmgkbrs387907044
gwascentralrs387907044
openSNPrs387907044
23andMers387907044
23andMe allrs387907044
SNP Nexus

SNPshotrs387907044
SNPdbers387907044
MSV3drs387907044
GWAS Ctlgrs387907044
Max Magnitude0
ClinVar
Risk rs387907044(T;T)
Alt rs387907044(T;T)
Reference rs387907044(C;C)
Significance Pathogenic
Disease Acrocallosal syndrome
Variation info
Gene KIF7
CLNDBN Acrocallosal syndrome, Schinzel type
Reversed 1
HGVS NC_000015.9:g.90193041G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023882.2,