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rs1057518789

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518789(C;T)
Make rs1057518789(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position3728803
GeneCREBBP
is asnp
is mentioned by
dbSNPrs1057518789
dbSNP (classic)rs1057518789
ClinGenrs1057518789
ebirs1057518789
HLIrs1057518789
Exacrs1057518789
Gnomadrs1057518789
Varsomers1057518789
LitVarrs1057518789
Maprs1057518789
PheGenIrs1057518789
Biobankrs1057518789
1000 genomesrs1057518789
hgdprs1057518789
ensemblrs1057518789
geneviewrs1057518789
scholarrs1057518789
googlers1057518789
pharmgkbrs1057518789
gwascentralrs1057518789
openSNPrs1057518789
23andMers1057518789
23andMe allrs1057518789
SNPshotrs1057518789
SNPdbers1057518789
MSV3drs1057518789
GWAS Ctlgrs1057518789
Max Magnitude0
ClinVar
Risk rs1057518789(T;T)
Alt rs1057518789(T;T)
Reference Rs1057518789(C;C)
Significance Probable-Pathogenic
Disease Global developmental delay Scoliosis
Variation info
Gene CREBBP
CLNDBN Global developmental delay Scoliosis
Reversed 1
HGVS NC_000016.9:g.3778804G>A
CLNSRC
CLNACC RCV000414795.1,