rs72549387

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs72549387(A;A)

Make rs72549387(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

38075218

Gene

CYP1B1

is a	snp
is	mentioned by
dbSNP	rs72549387
dbSNP (classic)	rs72549387
ClinGen	rs72549387
ebi	rs72549387
HLI	rs72549387
Exac	rs72549387
Gnomad	rs72549387
Varsome	rs72549387
LitVar	rs72549387
Map	rs72549387
PheGenI	rs72549387
Biobank	rs72549387
1000 genomes	rs72549387
hgdp	rs72549387
ensembl	rs72549387
geneview	rs72549387
scholar	rs72549387
google	rs72549387
pharmgkb	rs72549387
gwascentral	rs72549387
openSNP	rs72549387
23andMe	rs72549387
SNPshot	rs72549387
SNPdbe	rs72549387
MSV3d	rs72549387
GWAS Ctlg	rs72549387

Max Magnitude

0

OMIM	601771
Desc
Variant	0010
Related	also

ClinVar
Risk	rs72549387(A;A) rs72549387(C;C)
Alt	rs72549387(A;A) rs72549387(C;C)
Reference	Rs72549387(G;G)
Significance	Pathogenic
Disease	Irido-corneo-trabecular dysgenesis Glaucoma CYP1B1-Related Disorders Anterior segment dysgenesis 6 not provided
Variation	info
Gene	CYP1B1
CLNDBN	Irido-corneo-trabecular dysgenesis Glaucoma, congenital CYP1B1-Related Disorders Anterior segment dysgenesis 6 not provided
Reversed	1
HGVS	NC_000002.11:g.38302361C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008176.7, RCV000169657.1, RCV000331073.1, RCV000416316.1, RCV000489919.1,