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rs104893628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893628(C;C)
Make rs104893628(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position38074695
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs104893628
dbSNP (classic)rs104893628
ClinGenrs104893628
ebirs104893628
HLIrs104893628
Exacrs104893628
Gnomadrs104893628
Varsomers104893628
LitVarrs104893628
Maprs104893628
PheGenIrs104893628
Biobankrs104893628
1000 genomesrs104893628
hgdprs104893628
ensemblrs104893628
geneviewrs104893628
scholarrs104893628
googlers104893628
pharmgkbrs104893628
gwascentralrs104893628
openSNPrs104893628
23andMers104893628
SNPshotrs104893628
SNPdbers104893628
MSV3drs104893628
GWAS Ctlgrs104893628
Max Magnitude0
OMIM601771
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893628(C;C)
Alt rs104893628(C;C)
Reference Rs104893628(G;G)
Significance Pathogenic
Disease Glaucoma
Variation info
Gene CYP1B1
CLNDBN Glaucoma, congenital
Reversed 1
HGVS NC_000002.11:g.38301838C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008179.4,