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rs587778873

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587778873(-;-)
Make rs587778873(-;TCATGCCACC)
Make rs587778873(TCATGCCACC;TCATGCCACC)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position38071144
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs587778873
ebirs587778873
HLIrs587778873
Exacrs587778873
Varsomers587778873
Maprs587778873
PheGenIrs587778873
hapmaprs587778873
1000 genomesrs587778873
hgdprs587778873
ensemblrs587778873
gopubmedrs587778873
geneviewrs587778873
scholarrs587778873
googlers587778873
pharmgkbrs587778873
gwascentralrs587778873
openSNPrs587778873
23andMers587778873
23andMe allrs587778873
SNP Nexus

SNPshotrs587778873
SNPdbers587778873
MSV3drs587778873
GWAS Ctlgrs587778873
Max Magnitude0
ClinVar
Risk rs587778873(TCATGCCACC;TCATGCCACC)
Alt rs587778873(TCATGCCACC;TCATGCCACC)
Reference rs587778873(;)
Significance Pathogenic
Disease Irido-corneo-trabecular dysgenesis
Variation info
Gene CYP1B1
CLNDBN Irido-corneo-trabecular dysgenesis
Reversed 1
HGVS NC_000002.11:g.38298288_38298297dupGGTGGCATGA
CLNSRC
CLNACC RCV000059336.2,