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rs267607038

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607038(C;C)
Make rs267607038(C;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position44951952
GeneSETBP1
is asnp
is mentioned by
dbSNPrs267607038
ebirs267607038
HLIrs267607038
Exacrs267607038
Varsomers267607038
Maprs267607038
PheGenIrs267607038
hapmaprs267607038
1000 genomesrs267607038
hgdprs267607038
ensemblrs267607038
gopubmedrs267607038
geneviewrs267607038
scholarrs267607038
googlers267607038
pharmgkbrs267607038
gwascentralrs267607038
openSNPrs267607038
23andMers267607038
23andMe allrs267607038
SNP Nexus

SNPshotrs267607038
SNPdbers267607038
MSV3drs267607038
GWAS Ctlgrs267607038
Max Magnitude0
ClinVar
Risk rs267607038(C;C)
Alt rs267607038(C;C)
Reference rs267607038(T;T)
Significance Pathogenic
Disease Schinzel-Giedion syndrome
Variation info
Gene SETBP1
CLNDBN Schinzel-Giedion syndrome
Reversed 0
HGVS NC_000018.9:g.42531917T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001086.3,