rs28936701

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a primary congenital glaucoma mutation
(G;G)	0

Make rs28936701(T;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

38070949

Gene

CYP1B1

is a	snp
is	mentioned by
dbSNP	rs28936701
dbSNP (classic)	rs28936701
ClinGen	rs28936701
ebi	rs28936701
HLI	rs28936701
Exac	rs28936701
Gnomad	rs28936701
Varsome	rs28936701
LitVar	rs28936701
Map	rs28936701
PheGenI	rs28936701
Biobank	rs28936701
1000 genomes	rs28936701
hgdp	rs28936701
ensembl	rs28936701
geneview	rs28936701
scholar	rs28936701
google	rs28936701
pharmgkb	rs28936701
gwascentral	rs28936701
openSNP	rs28936701
23andMe	rs28936701
SNPshot	rs28936701
SNPdbe	rs28936701
MSV3d	rs28936701
GWAS Ctlg	rs28936701

Max Magnitude

3

aka c.1405C>T (p.Arg469Trp or R469W)

?	(C;C) (C;T) (T;T)	28

OMIM	601771
Desc	GLAUCOMA 3, PRIMARY CONGENITAL, A
Variant	0006
Related	also

ClinVar
Risk	rs28936701(T;T)
Alt	rs28936701(T;T)
Reference	Rs28936701(C;C)
Significance	Pathogenic
Disease	Glaucoma not provided
Variation	info
Gene	CYP1B1
CLNDBN	Glaucoma, congenital not provided
Reversed	1
HGVS	NC_000002.11:g.38298092G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008172.3, RCV000255845.1,