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rs267607039

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607039(A;A)
Make rs267607039(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position44951949
GeneSETBP1
is asnp
is mentioned by
dbSNPrs267607039
ebirs267607039
HLIrs267607039
Exacrs267607039
Varsomers267607039
Maprs267607039
PheGenIrs267607039
hapmaprs267607039
1000 genomesrs267607039
hgdprs267607039
ensemblrs267607039
gopubmedrs267607039
geneviewrs267607039
scholarrs267607039
googlers267607039
pharmgkbrs267607039
gwascentralrs267607039
openSNPrs267607039
23andMers267607039
23andMe allrs267607039
SNP Nexus

SNPshotrs267607039
SNPdbers267607039
MSV3drs267607039
GWAS Ctlgrs267607039
Max Magnitude0
ClinVar
Risk rs267607039(A;A)
Alt rs267607039(A;A)
Reference rs267607039(G;G)
Significance Pathogenic
Disease Schinzel-Giedion syndrome
Variation info
Gene SETBP1
CLNDBN Schinzel-Giedion syndrome
Reversed 0
HGVS NC_000018.9:g.42531914G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001089.2,