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rs55989760

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs55989760(A;A)
Make rs55989760(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position38071195
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs55989760
dbSNP (classic)rs55989760
ClinGenrs55989760
ebirs55989760
HLIrs55989760
Exacrs55989760
Gnomadrs55989760
Varsomers55989760
LitVarrs55989760
Maprs55989760
PheGenIrs55989760
Biobankrs55989760
1000 genomesrs55989760
hgdprs55989760
ensemblrs55989760
geneviewrs55989760
scholarrs55989760
googlers55989760
pharmgkbrs55989760
gwascentralrs55989760
openSNPrs55989760
23andMers55989760
SNPshotrs55989760
SNPdbers55989760
MSV3drs55989760
GWAS Ctlgrs55989760
Max Magnitude0
OMIM601771
Desc
Variant0008
Relatedalso
OMIM601771
Desc
Variant0014
Relatedalso
ClinVar
Risk rs55989760(A;A) rs55989760(C;C)
Alt rs55989760(A;A) rs55989760(C;C)
Reference Rs55989760(G;G)
Significance Pathogenic
Disease Glaucoma
Variation info
Gene CYP1B1
CLNDBN Glaucoma, congenital
Reversed 1
HGVS NC_000002.11:g.38298338C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008174.4,