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rs281865471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs281865471(-;-)
Make rs281865471(-;AG)
ReferenceGRCh38 38.1/141
Chromosome17
Position46033131
GeneKANSL1
is asnp
is mentioned by
dbSNPrs281865471
ebirs281865471
HLIrs281865471
Exacrs281865471
Varsomers281865471
Maprs281865471
PheGenIrs281865471
hapmaprs281865471
1000 genomesrs281865471
hgdprs281865471
ensemblrs281865471
gopubmedrs281865471
geneviewrs281865471
scholarrs281865471
googlers281865471
pharmgkbrs281865471
gwascentralrs281865471
openSNPrs281865471
23andMers281865471
23andMe allrs281865471
SNP Nexus

SNPshotrs281865471
SNPdbers281865471
MSV3drs281865471
GWAS Ctlgrs281865471
Max Magnitude0
ClinVar
Risk rs281865471(;)
Alt rs281865471(;)
Reference rs281865471(AG;AG)
Significance Pathogenic
Disease Koolen-de Vries syndrome
Variation info
Gene KANSL1
CLNDBN Koolen-de Vries syndrome
Reversed 1
HGVS NC_000017.10:g.44110497_44110498delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000024372.3,