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rs281865469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865469(C;T)
Make rs281865469(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position46066569
GeneKANSL1
is asnp
is mentioned by
dbSNPrs281865469
ebirs281865469
HLIrs281865469
Exacrs281865469
Varsomers281865469
Maprs281865469
PheGenIrs281865469
hapmaprs281865469
1000 genomesrs281865469
hgdprs281865469
ensemblrs281865469
gopubmedrs281865469
geneviewrs281865469
scholarrs281865469
googlers281865469
pharmgkbrs281865469
gwascentralrs281865469
openSNPrs281865469
23andMers281865469
23andMe allrs281865469
SNP Nexus

SNPshotrs281865469
SNPdbers281865469
MSV3drs281865469
GWAS Ctlgrs281865469
Max Magnitude0
ClinVar
Risk rs281865469(G,T;G,T)
Alt rs281865469(G,T;G,T)
Reference rs281865469(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.44143935G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024371.1,