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rs104893629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893629(A;T)
Make rs104893629(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position38071087
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs104893629
dbSNP (classic)rs104893629
ClinGenrs104893629
ebirs104893629
HLIrs104893629
Exacrs104893629
Gnomadrs104893629
Varsomers104893629
LitVarrs104893629
Maprs104893629
PheGenIrs104893629
Biobankrs104893629
1000 genomesrs104893629
hgdprs104893629
ensemblrs104893629
geneviewrs104893629
scholarrs104893629
googlers104893629
pharmgkbrs104893629
gwascentralrs104893629
openSNPrs104893629
23andMers104893629
SNPshotrs104893629
SNPdbers104893629
MSV3drs104893629
GWAS Ctlgrs104893629
Max Magnitude0
OMIM601771
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104893629(T;T)
Alt rs104893629(T;T)
Reference Rs104893629(A;A)
Significance Pathogenic
Disease Glaucoma
Variation info
Gene CYP1B1
CLNDBN Glaucoma, primary open angle, juvenile-onset Glaucoma, congenital
Reversed 1
HGVS NC_000002.11:g.38298230T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008183.3, RCV000008184.4,