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rs794727124

From SNPedia

Orientationminus
Make rs794727124(-;-)
Make rs794727124(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3770765
GeneCREBBP
is asnp
is mentioned by
dbSNPrs794727124
ebirs794727124
HLIrs794727124
Exacrs794727124
Varsomers794727124
Maprs794727124
PheGenIrs794727124
hapmaprs794727124
1000 genomesrs794727124
hgdprs794727124
ensemblrs794727124
gopubmedrs794727124
geneviewrs794727124
scholarrs794727124
googlers794727124
pharmgkbrs794727124
gwascentralrs794727124
openSNPrs794727124
23andMers794727124
23andMe allrs794727124
SNP Nexus

SNPshotrs794727124
SNPdbers794727124
MSV3drs794727124
GWAS Ctlgrs794727124
Max Magnitude
ClinVar
Risk rs794727124(;)
Alt rs794727124(;)
Reference rs794727124(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3820766delG
CLNSRC
CLNACC RCV000174746.1,