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rs72549389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72549389(C;C)
Make rs72549389(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position38075387
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs72549389
ebirs72549389
HLIrs72549389
Exacrs72549389
Varsomers72549389
Maprs72549389
PheGenIrs72549389
hapmaprs72549389
1000 genomesrs72549389
hgdprs72549389
ensemblrs72549389
gopubmedrs72549389
geneviewrs72549389
scholarrs72549389
googlers72549389
pharmgkbrs72549389
gwascentralrs72549389
openSNPrs72549389
23andMers72549389
23andMe allrs72549389
SNP Nexus

SNPshotrs72549389
SNPdbers72549389
MSV3drs72549389
GWAS Ctlgrs72549389
Max Magnitude0
OMIM601771
Desc
Variant0009
Relatedalso


ClinVar
Risk rs72549389(C;C)
Alt rs72549389(C;C)
Reference rs72549389(T;T)
Significance Pathogenic
Disease Irido-corneo-trabecular dysgenesis
Variation info
Gene CYP1B1
CLNDBN Irido-corneo-trabecular dysgenesis
Reversed 1
HGVS NC_000002.11:g.38302530A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008175.2,