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rs281865472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATCC;ATCC) 0 common in clinvar
Make rs281865472(-;-)
Make rs281865472(-;ATCC)
ReferenceGRCh38 38.1/141
Chromosome17
Position46050683
GeneKANSL1
is asnp
is mentioned by
dbSNPrs281865472
ebirs281865472
HLIrs281865472
Exacrs281865472
Varsomers281865472
Maprs281865472
PheGenIrs281865472
hapmaprs281865472
1000 genomesrs281865472
hgdprs281865472
ensemblrs281865472
gopubmedrs281865472
geneviewrs281865472
scholarrs281865472
googlers281865472
pharmgkbrs281865472
gwascentralrs281865472
openSNPrs281865472
23andMers281865472
23andMe allrs281865472
SNP Nexus

SNPshotrs281865472
SNPdbers281865472
MSV3drs281865472
GWAS Ctlgrs281865472
Max Magnitude0
ClinVar
Risk rs281865472(;)
Alt rs281865472(;)
Reference rs281865472(ATCC;ATCC)
Significance Pathogenic
Disease Koolen-de Vries syndrome
Variation info
Gene KANSL1
CLNDBN Koolen-de Vries syndrome
Reversed 1
HGVS NC_000017.10:g.44128049_44128052delGGAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032180.1,