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rs267607040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607040(A;A)
Make rs267607040(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position44951948
GeneSETBP1
is asnp
is mentioned by
dbSNPrs267607040
ebirs267607040
HLIrs267607040
Exacrs267607040
Varsomers267607040
Maprs267607040
PheGenIrs267607040
hapmaprs267607040
1000 genomesrs267607040
hgdprs267607040
ensemblrs267607040
gopubmedrs267607040
geneviewrs267607040
scholarrs267607040
googlers267607040
pharmgkbrs267607040
gwascentralrs267607040
openSNPrs267607040
23andMers267607040
23andMe allrs267607040
SNP Nexus

SNPshotrs267607040
SNPdbers267607040
MSV3drs267607040
GWAS Ctlgrs267607040
Max Magnitude0
ClinVar
Risk rs267607040(A;A)
Alt rs267607040(A;A)
Reference rs267607040(G;G)
Significance Pathogenic
Disease Schinzel-Giedion syndrome
Variation info
Gene SETBP1
CLNDBN Schinzel-Giedion syndrome
Reversed 0
HGVS NC_000018.9:g.42531913G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001090.3,