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rs72549387

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72549387(A;A)
Make rs72549387(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position38075218
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs72549387
ebirs72549387
HLIrs72549387
Exacrs72549387
Varsomers72549387
Maprs72549387
PheGenIrs72549387
hapmaprs72549387
1000 genomesrs72549387
hgdprs72549387
ensemblrs72549387
gopubmedrs72549387
geneviewrs72549387
scholarrs72549387
googlers72549387
pharmgkbrs72549387
gwascentralrs72549387
openSNPrs72549387
23andMers72549387
23andMe allrs72549387
SNP Nexus

SNPshotrs72549387
SNPdbers72549387
MSV3drs72549387
GWAS Ctlgrs72549387
Max Magnitude0
OMIM601771
Desc
Variant0010
Relatedalso
ClinVar
Risk rs72549387(A,C;A,C)
Alt rs72549387(A,C;A,C)
Reference rs72549387(G;G)
Significance Pathogenic
Disease Irido-corneo-trabecular dysgenesis Glaucoma
Variation info
Gene CYP1B1
CLNDBN Irido-corneo-trabecular dysgenesis Glaucoma, congenital
Reversed 1
HGVS NC_000002.11:g.38302361C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008176.5, RCV000169657.1,