rs72549389

Orientation

minus

Stabilized

minus

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

Make rs72549389(C;C)

Make rs72549389(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

38075387

Gene

CYP1B1

is a	snp
is	mentioned by
dbSNP	rs72549389
dbSNP (classic)	rs72549389
ClinGen	rs72549389
ebi	rs72549389
HLI	rs72549389
Exac	rs72549389
Gnomad	rs72549389
Varsome	rs72549389
LitVar	rs72549389
Map	rs72549389
PheGenI	rs72549389
Biobank	rs72549389
1000 genomes	rs72549389
hgdp	rs72549389
ensembl	rs72549389
geneview	rs72549389
scholar	rs72549389
google	rs72549389
pharmgkb	rs72549389
gwascentral	rs72549389
openSNP	rs72549389
23andMe	rs72549389
SNPshot	rs72549389
SNPdbe	rs72549389
MSV3d	rs72549389
GWAS Ctlg	rs72549389

Max Magnitude

0

OMIM	601771
Desc
Variant	0009
Related	also

ClinVar
Risk	rs72549389(C;C)
Alt	rs72549389(C;C)
Reference	Rs72549389(T;T)
Significance	Pathogenic
Disease	Anterior segment dysgenesis 6
Variation	info
Gene	CYP1B1
CLNDBN	Anterior segment dysgenesis 6
Reversed	1
HGVS	NC_000002.11:g.38302530A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008175.4,