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rs28936700

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28936700(A;A)
Make rs28936700(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position38075207
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs28936700
ebirs28936700
HLIrs28936700
Exacrs28936700
Varsomers28936700
Maprs28936700
PheGenIrs28936700
hapmaprs28936700
1000 genomesrs28936700
hgdprs28936700
ensemblrs28936700
gopubmedrs28936700
geneviewrs28936700
scholarrs28936700
googlers28936700
pharmgkbrs28936700
gwascentralrs28936700
openSNPrs28936700
23andMers28936700
23andMe allrs28936700
SNP Nexus

SNPshotrs28936700
SNPdbers28936700
MSV3drs28936700
GWAS Ctlgrs28936700
Max Magnitude0
OMIM601771
DescGLAUCOMA 3, PRIMARY CONGENITAL, A
Variant0003
Relatedalso
Neighborrs9282671
Distance59


ClinVar
Risk rs28936700(A;A)
Alt rs28936700(A;A)
Reference rs28936700(G;G)
Significance Pathogenic
Disease Glaucoma
Variation info
Gene CYP1B1
CLNDBN Glaucoma, congenital
Reversed 1
HGVS NC_000002.11:g.38302350C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008169.2,