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rs148542782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148542782(A;A)
Make rs148542782(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position38071186
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs148542782
dbSNP (old)rs148542782
ClinGenrs148542782
ebirs148542782
HLIrs148542782
Exacrs148542782
Gnomadrs148542782
Varsomers148542782
LitVarrs148542782
Maprs148542782
PheGenIrs148542782
Biobankrs148542782
1000 genomesrs148542782
hgdprs148542782
ensemblrs148542782
gopubmedrs148542782
geneviewrs148542782
scholarrs148542782
googlers148542782
pharmgkbrs148542782
gwascentralrs148542782
openSNPrs148542782
23andMers148542782
23andMe allrs148542782
SNPshotrs148542782
SNPdbers148542782
MSV3drs148542782
GWAS Ctlgrs148542782
Max Magnitude0
ClinVar
Risk rs148542782(A;A) rs148542782(T;T)
Alt rs148542782(A;A) rs148542782(T;T)
Reference Rs148542782(G;G)
Significance Pathogenic
Disease Peters anomaly Primary congenital glaucoma
Variation info
Gene CYP1B1
CLNDBN Peters anomaly Primary congenital glaucoma
Reversed 0
HGVS NC_000002.11:g.38298329G>A
CLNSRC Illumina
CLNACC RCV000307738.1, RCV000396035.1,