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rs28936701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28936701(C;T)
Make rs28936701(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position38070949
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs28936701
ebirs28936701
HLIrs28936701
Exacrs28936701
Varsomers28936701
Maprs28936701
PheGenIrs28936701
hapmaprs28936701
1000 genomesrs28936701
hgdprs28936701
ensemblrs28936701
gopubmedrs28936701
geneviewrs28936701
scholarrs28936701
googlers28936701
pharmgkbrs28936701
gwascentralrs28936701
openSNPrs28936701
23andMers28936701
23andMe allrs28936701
SNP Nexus

SNPshotrs28936701
SNPdbers28936701
MSV3drs28936701
GWAS Ctlgrs28936701
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM601771
DescGLAUCOMA 3, PRIMARY CONGENITAL, A
Variant0006
Relatedalso
Neighborrs1056836
Distance111


ClinVar
Risk rs28936701(T;T)
Alt rs28936701(T;T)
Reference rs28936701(C;C)
Significance Pathogenic
Disease Glaucoma
Variation info
Gene CYP1B1
CLNDBN Glaucoma, congenital
Reversed 1
HGVS NC_000002.11:g.38298092G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008172.2,