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rs281865473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs281865473(-;-)
Make rs281865473(-;TT)
ReferenceGRCh38 38.1/141
Chromosome17
Position46171158
GeneKANSL1
is asnp
is mentioned by
dbSNPrs281865473
ebirs281865473
HLIrs281865473
Exacrs281865473
Varsomers281865473
Maprs281865473
PheGenIrs281865473
hapmaprs281865473
1000 genomesrs281865473
hgdprs281865473
ensemblrs281865473
gopubmedrs281865473
geneviewrs281865473
scholarrs281865473
googlers281865473
pharmgkbrs281865473
gwascentralrs281865473
openSNPrs281865473
23andMers281865473
23andMe allrs281865473
SNP Nexus

SNPshotrs281865473
SNPdbers281865473
MSV3drs281865473
GWAS Ctlgrs281865473
Max Magnitude0
ClinVar
Risk rs281865473(;)
Alt rs281865473(;)
Reference rs281865473(TT;TT)
Significance Pathogenic
Disease Koolen-de Vries syndrome
Variation info
Gene KANSL1
CLNDBN Koolen-de Vries syndrome
Reversed 1
HGVS NC_000017.10:g.44248524_44248525delAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032181.1,