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rs281865470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865470(A;A)
Make rs281865470(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position46067548
GeneKANSL1
is asnp
is mentioned by
dbSNPrs281865470
ebirs281865470
HLIrs281865470
Exacrs281865470
Varsomers281865470
Maprs281865470
PheGenIrs281865470
hapmaprs281865470
1000 genomesrs281865470
hgdprs281865470
ensemblrs281865470
gopubmedrs281865470
geneviewrs281865470
scholarrs281865470
googlers281865470
pharmgkbrs281865470
gwascentralrs281865470
openSNPrs281865470
23andMers281865470
23andMe allrs281865470
SNP Nexus

SNPshotrs281865470
SNPdbers281865470
MSV3drs281865470
GWAS Ctlgrs281865470
Max Magnitude0
ClinVar
Risk rs281865470(A;A)
Alt rs281865470(A;A)
Reference rs281865470(G;G)
Significance Pathogenic
Disease Koolen-de Vries syndrome
Variation info
Gene KANSL1
CLNDBN Koolen-de Vries syndrome
Reversed 1
HGVS NC_000017.10:g.44144914C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024374.3,