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rs797045488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGCAAGGAG;TGCAAGGAG) 0 common in clinvar
Make rs797045488(AA;AA)
Make rs797045488(AA;TGCAAGGAG)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3767885
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045488
dbSNP (old)rs797045488
ClinGenrs797045488
ebirs797045488
HLIrs797045488
Exacrs797045488
Varsomers797045488
Maprs797045488
PheGenIrs797045488
Biobankrs797045488
1000 genomesrs797045488
hgdprs797045488
ensemblrs797045488
gopubmedrs797045488
geneviewrs797045488
scholarrs797045488
googlers797045488
pharmgkbrs797045488
gwascentralrs797045488
openSNPrs797045488
23andMers797045488
23andMe allrs797045488
SNP Nexus

SNPshotrs797045488
SNPdbers797045488
MSV3drs797045488
GWAS Ctlgrs797045488
Max Magnitude0
ClinVar
Risk rs797045488(AA;AA)
Alt rs797045488(AA;AA)
Reference Rs797045488(TGCAAGGAG;TGCAAGGAG)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3817886_3817894delCTCCTTGCAinsTT
CLNSRC
CLNACC RCV000194630.1,