Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057518844

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518844(A;A)
Make rs1057518844(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position3757288
GeneCREBBP
is asnp
is mentioned by
dbSNPrs1057518844
dbSNP (old)rs1057518844
ClinGenrs1057518844
ebirs1057518844
HLIrs1057518844
Exacrs1057518844
Gnomadrs1057518844
Varsomers1057518844
LitVarrs1057518844
Maprs1057518844
PheGenIrs1057518844
Biobankrs1057518844
1000 genomesrs1057518844
hgdprs1057518844
ensemblrs1057518844
gopubmedrs1057518844
geneviewrs1057518844
scholarrs1057518844
googlers1057518844
pharmgkbrs1057518844
gwascentralrs1057518844
openSNPrs1057518844
23andMers1057518844
23andMe allrs1057518844
SNPshotrs1057518844
SNPdbers1057518844
MSV3drs1057518844
GWAS Ctlgrs1057518844
Max Magnitude0
ClinVar
Risk rs1057518844(A;A)
Alt rs1057518844(A;A)
Reference Rs1057518844(G;G)
Significance Probable-Pathogenic
Disease Abnormality of the thumb Glaucoma
Variation info
Gene CREBBP
CLNDBN Abnormality of the thumb Glaucoma
Reversed 1
HGVS NC_000016.9:g.3807289C>T
CLNSRC
CLNACC RCV000415361.1,