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rs267607041

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607041(A;C)
Make rs267607041(C;C)
ReferenceGRCh38 38.1/141
Chromosome18
Position44951943
GeneSETBP1
is asnp
is mentioned by
dbSNPrs267607041
ebirs267607041
HLIrs267607041
Exacrs267607041
Varsomers267607041
Maprs267607041
PheGenIrs267607041
hapmaprs267607041
1000 genomesrs267607041
hgdprs267607041
ensemblrs267607041
gopubmedrs267607041
geneviewrs267607041
scholarrs267607041
googlers267607041
pharmgkbrs267607041
gwascentralrs267607041
openSNPrs267607041
23andMers267607041
23andMe allrs267607041
SNP Nexus

SNPshotrs267607041
SNPdbers267607041
MSV3drs267607041
GWAS Ctlgrs267607041
Max Magnitude0
ClinVar
Risk rs267607041(C;C)
Alt rs267607041(C;C)
Reference rs267607041(A;A)
Significance Pathogenic
Disease Schinzel-Giedion syndrome
Variation info
Gene SETBP1
CLNDBN Schinzel-Giedion syndrome
Reversed 0
HGVS NC_000018.9:g.42531908A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001088.2,