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rs138410949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs138410949(C;C)
Make rs138410949(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position89631625
GeneKIF7
is asnp
is mentioned by
dbSNPrs138410949
dbSNP (classic)rs138410949
ClinGenrs138410949
ebirs138410949
HLIrs138410949
Exacrs138410949
Gnomadrs138410949
Varsomers138410949
LitVarrs138410949
Maprs138410949
PheGenIrs138410949
Biobankrs138410949
1000 genomesrs138410949
hgdprs138410949
ensemblrs138410949
geneviewrs138410949
scholarrs138410949
googlers138410949
pharmgkbrs138410949
gwascentralrs138410949
openSNPrs138410949
23andMers138410949
SNPshotrs138410949
SNPdbers138410949
MSV3drs138410949
GWAS Ctlgrs138410949
Max Magnitude0
ClinVar
Risk rs138410949(C;C)
Alt rs138410949(C;C)
Reference Rs138410949(T;T)
Significance Pathogenic
Disease not specified Acrocallosal syndrome
Variation info
Gene KIF7
CLNDBN not specified Acrocallosal syndrome, Schinzel type
Reversed 0
HGVS NC_000015.9:g.90174856T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000174962.2, RCV000201541.1,