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

rs104893622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893622(A;A)
Make rs104893622(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position38071234
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs104893622
dbSNP (classic)rs104893622
ClinGenrs104893622
ebirs104893622
HLIrs104893622
Exacrs104893622
Gnomadrs104893622
Varsomers104893622
LitVarrs104893622
Maprs104893622
PheGenIrs104893622
Biobankrs104893622
1000 genomesrs104893622
hgdprs104893622
ensemblrs104893622
geneviewrs104893622
scholarrs104893622
googlers104893622
pharmgkbrs104893622
gwascentralrs104893622
openSNPrs104893622
23andMers104893622
SNPshotrs104893622
SNPdbers104893622
MSV3drs104893622
GWAS Ctlgrs104893622
Merged fromRs28936413
Max Magnitude0
OMIM601771
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893622(A;A)
Alt rs104893622(A;A)
Reference Rs104893622(G;G)
Significance Pathogenic
Disease Glaucoma
Variation info
Gene CYP1B1
CLNDBN Glaucoma, congenital
Reversed 1
HGVS NC_000002.11:g.38298377C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008173.3,