rs28936700

Orientation

minus

Stabilized

minus

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

Make rs28936700(A;A)

Reference

GRCh38 38.1/141

Chromosome

2

Position

38075207

Gene

CYP1B1

is a	snp
is	mentioned by
dbSNP	rs28936700
dbSNP (classic)	rs28936700
ClinGen	rs28936700
ebi	rs28936700
HLI	rs28936700
Exac	rs28936700
Gnomad	rs28936700
Varsome	rs28936700
LitVar	rs28936700
Map	rs28936700
PheGenI	rs28936700
Biobank	rs28936700
1000 genomes	rs28936700
hgdp	rs28936700
ensembl	rs28936700
geneview	rs28936700
scholar	rs28936700
google	rs28936700
pharmgkb	rs28936700
gwascentral	rs28936700
openSNP	rs28936700
23andMe	rs28936700
SNPshot	rs28936700
SNPdbe	rs28936700
MSV3d	rs28936700
GWAS Ctlg	rs28936700

Max Magnitude

3

aka c.182G>A (p.Gly61Glu or G61E)

OMIM	601771
Desc	GLAUCOMA 3, PRIMARY CONGENITAL, A
Variant	0003
Related	also

ClinVar
Risk	rs28936700(A;A)
Alt	rs28936700(A;A)
Reference	Rs28936700(G;G)
Significance	Pathogenic
Disease	Glaucoma not provided
Variation	info
Gene	CYP1B1
CLNDBN	Glaucoma, congenital not provided
Reversed	1
HGVS	NC_000002.11:g.38302350C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008169.3, RCV000255452.1,