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

rs55771538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs55771538(G;T)
Make rs55771538(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position38071261
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs55771538
dbSNP (classic)rs55771538
ClinGenrs55771538
ebirs55771538
HLIrs55771538
Exacrs55771538
Gnomadrs55771538
Varsomers55771538
LitVarrs55771538
Maprs55771538
PheGenIrs55771538
Biobankrs55771538
1000 genomesrs55771538
hgdprs55771538
ensemblrs55771538
geneviewrs55771538
scholarrs55771538
googlers55771538
pharmgkbrs55771538
gwascentralrs55771538
openSNPrs55771538
23andMers55771538
SNPshotrs55771538
SNPdbers55771538
MSV3drs55771538
GWAS Ctlgrs55771538
Max Magnitude0
OMIM601771
Desc
Variant0005
Relatedalso
ClinVar
Risk rs55771538(C;C) rs55771538(T;T)
Alt rs55771538(C;C) rs55771538(T;T)
Reference Rs55771538(G;G)
Significance Pathogenic
Disease Glaucoma
Variation info
Gene CYP1B1
CLNDBN Glaucoma, congenital
Reversed 1
HGVS NC_000002.11:g.38298404C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008171.5,