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rs28936414

From SNPedia

Merged intors79204362
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0
Make rs28936414(A;A)
Make rs28936414(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position38071251
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs28936414
ebirs28936414
HLIrs28936414
Exacrs28936414
Varsomers28936414
Maprs28936414
PheGenIrs28936414
hapmaprs28936414
1000 genomesrs28936414
hgdprs28936414
ensemblrs28936414
gopubmedrs28936414
geneviewrs28936414
scholarrs28936414
googlers28936414
pharmgkbrs28936414
gwascentralrs28936414
openSNPrs28936414
23andMers28936414
23andMe allrs28936414
SNP Nexus

SNPshotrs28936414
SNPdbers28936414
MSV3drs28936414
GWAS Ctlgrs28936414
StatusMerged into rs79204362
Max Magnitude0
OMIM601771
DescGLAUCOMA, EARLY-ONSET, DIGENIC
Variant0012
Relatedalso
Neighborrs28936413
Distance17
[PMID 20057908OA-icon.png] Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
GET Evidence
CYP1B1-R368H
aa_change Arg368His
aa_change_short R368H
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.00149617
summary This variant has been associated with early onset open-angle glaucoma and juvenile open-angle glaucoma, acting as a modifier to a variant in another gene or compound heterozygously with other more severe variants in the same gene.