rs79204362

Orientation

plus

Stabilized

plus

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

Make rs79204362(C;T)

Make rs79204362(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

38071251

Gene

CYP1B1

is a	snp
is	mentioned by
dbSNP	rs79204362
dbSNP (classic)	rs79204362
ClinGen	rs79204362
ebi	rs79204362
HLI	rs79204362
Exac	rs79204362
Gnomad	rs79204362
Varsome	rs79204362
LitVar	rs79204362
Map	rs79204362
PheGenI	rs79204362
Biobank	rs79204362
1000 genomes	rs79204362
hgdp	rs79204362
ensembl	rs79204362
geneview	rs79204362
scholar	rs79204362
google	rs79204362
pharmgkb	rs79204362
gwascentral	rs79204362
openSNP	rs79204362
23andMe	rs79204362
SNPshot	rs79204362
SNPdbe	rs79204362
MSV3d	rs79204362
GWAS Ctlg	rs79204362

Merged from

Rs28936414

GMAF

0.0009183

Max Magnitude

0

OMIM	601771
Desc
Variant	0012
Related	also

ClinVar
Risk	rs79204362(T;T)
Alt	rs79204362(T;T)
Reference	Rs79204362(C;C)
Significance	Pathogenic
Disease	Glaucoma Coloboma not provided not specified
Variation	info
Gene	CYP1B1
CLNDBN	Glaucoma, early-onset, digenic Glaucoma, congenital Coloboma not provided not specified
Reversed	0
HGVS	NC_000002.11:g.38298394C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008178.3, RCV000023146.6, RCV000059335.2, RCV000078123.3, RCV000489962.1,