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rs1057518659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTGAGCAAACT;TTGAGCAAACT) 0 common in clinvar
Make rs1057518659(-;-)
Make rs1057518659(-;TTGAGCAAACT)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position46171149
GeneKANSL1
is asnp
is mentioned by
dbSNPrs1057518659
dbSNP (classic)rs1057518659
ClinGenrs1057518659
ebirs1057518659
HLIrs1057518659
Exacrs1057518659
Gnomadrs1057518659
Varsomers1057518659
LitVarrs1057518659
Maprs1057518659
PheGenIrs1057518659
Biobankrs1057518659
1000 genomesrs1057518659
hgdprs1057518659
ensemblrs1057518659
geneviewrs1057518659
scholarrs1057518659
googlers1057518659
pharmgkbrs1057518659
gwascentralrs1057518659
openSNPrs1057518659
23andMers1057518659
23andMe allrs1057518659
SNPshotrs1057518659
SNPdbers1057518659
MSV3drs1057518659
GWAS Ctlgrs1057518659
Max Magnitude0
ClinVar
Risk rs1057518659(-;-)
Alt rs1057518659(-;-)
Reference Rs1057518659(TTGAGCAAACT;TTGAGCAAACT)
Significance Probable-Pathogenic
Disease Koolen-de Vries syndrome
Variation info
Gene KANSL1
CLNDBN Koolen-de Vries syndrome
Reversed 1
HGVS NC_000017.10:g.44248515_44248525delAGTTTGCTCAA
CLNSRC
CLNACC RCV000415114.1,