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rs797045491

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045491(-;TG)
Make rs797045491(TG;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3850745
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045491
ClinGenrs797045491
ebirs797045491
HLIrs797045491
Exacrs797045491
Varsomers797045491
Maprs797045491
PheGenIrs797045491
hapmaprs797045491
1000 genomesrs797045491
hgdprs797045491
ensemblrs797045491
gopubmedrs797045491
geneviewrs797045491
scholarrs797045491
googlers797045491
pharmgkbrs797045491
gwascentralrs797045491
openSNPrs797045491
23andMers797045491
23andMe allrs797045491
SNP Nexus

SNPshotrs797045491
SNPdbers797045491
MSV3drs797045491
GWAS Ctlgrs797045491
Max Magnitude0
ClinVar
Risk rs797045491(TG;TG)
Alt rs797045491(TG;TG)
Reference Rs797045491(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3900747_3900748dupCA
CLNSRC
CLNACC RCV000195252.1,