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rs281865468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865468(C;T)
Make rs281865468(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position46171228
GeneKANSL1
is asnp
is mentioned by
dbSNPrs281865468
ebirs281865468
HLIrs281865468
Exacrs281865468
Varsomers281865468
Maprs281865468
PheGenIrs281865468
hapmaprs281865468
1000 genomesrs281865468
hgdprs281865468
ensemblrs281865468
gopubmedrs281865468
geneviewrs281865468
scholarrs281865468
googlers281865468
pharmgkbrs281865468
gwascentralrs281865468
openSNPrs281865468
23andMers281865468
23andMe allrs281865468
SNP Nexus

SNPshotrs281865468
SNPdbers281865468
MSV3drs281865468
GWAS Ctlgrs281865468
Max Magnitude0
ClinVar
Risk rs281865468(T;T)
Alt rs281865468(T;T)
Reference rs281865468(C;C)
Significance Pathogenic
Disease Koolen-de Vries syndrome
Variation info
Gene KANSL1
CLNDBN Koolen-de Vries syndrome
Reversed 1
HGVS NC_000017.10:g.44248594G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024373.1,