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rs79204362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79204362(C;T)
Make rs79204362(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position38071251
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs79204362
ebirs79204362
HLIrs79204362
Exacrs79204362
Varsomers79204362
Maprs79204362
PheGenIrs79204362
hapmaprs79204362
1000 genomesrs79204362
hgdprs79204362
ensemblrs79204362
gopubmedrs79204362
geneviewrs79204362
scholarrs79204362
googlers79204362
pharmgkbrs79204362
gwascentralrs79204362
openSNPrs79204362
23andMers79204362
23andMe allrs79204362
SNP Nexus

SNPshotrs79204362
SNPdbers79204362
MSV3drs79204362
GWAS Ctlgrs79204362
Merged fromRs28936414
GMAF0.0009183
Max Magnitude0
OMIM601771
Desc
Variant0012
Relatedalso
ClinVar
Risk rs79204362(T;T)
Alt rs79204362(T;T)
Reference rs79204362(C;C)
Significance Pathogenic
Disease Glaucoma Coloboma not provided
Variation info
Gene CYP1B1
CLNDBN Glaucoma, early-onset, digenic Glaucoma, congenital Coloboma not provided
Reversed 0
HGVS NC_000002.11:g.38298394C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008178.3, RCV000023146.5, RCV000059335.2, RCV000078123.3,