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rs72549380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGTGCAGGCAGA;GAGTGCAGGCAGA) 0 common in clinvar
Make rs72549380(-;-)
Make rs72549380(-;GAGTGCAGGCAGA)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position38071278
GeneCYP1B1
is asnp
is mentioned by
dbSNPrs72549380
dbSNP (classic)rs72549380
ClinGenrs72549380
ebirs72549380
HLIrs72549380
Exacrs72549380
Gnomadrs72549380
Varsomers72549380
LitVarrs72549380
Maprs72549380
PheGenIrs72549380
Biobankrs72549380
1000 genomesrs72549380
hgdprs72549380
ensemblrs72549380
geneviewrs72549380
scholarrs72549380
googlers72549380
pharmgkbrs72549380
gwascentralrs72549380
openSNPrs72549380
23andMers72549380
23andMe allrs72549380
SNPshotrs72549380
SNPdbers72549380
MSV3drs72549380
GWAS Ctlgrs72549380
Max Magnitude0
ClinVar
Risk rs72549380(-;-)
Alt rs72549380(-;-)
Reference Rs72549380(GAGTGCAGGCAGA;GAGTGCAGGCAGA)
Significance Pathogenic
Disease Glaucoma
Variation info
Gene CYP1B1
CLNDBN Glaucoma, congenital
Reversed 1
HGVS NC_000002.11:g.38298421_38298433delTCTGCCTGCACTC
CLNSRC
CLNACC RCV000260225.1,