rs72551348

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a Crigler-Najjar syndrome mutation

Make rs72551348(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

233767161

Gene	UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10

is a	snp
is	mentioned by
dbSNP	rs72551348
dbSNP (classic)	rs72551348
ClinGen	rs72551348
ebi	rs72551348
HLI	rs72551348
Exac	rs72551348
Gnomad	rs72551348
Varsome	rs72551348
LitVar	rs72551348
Map	rs72551348
PheGenI	rs72551348
Biobank	rs72551348
1000 genomes	rs72551348
hgdp	rs72551348
ensembl	rs72551348
geneview	rs72551348
scholar	rs72551348
google	rs72551348
pharmgkb	rs72551348
gwascentral	rs72551348
openSNP	rs72551348
23andMe	rs72551348
SNPshot	rs72551348
SNPdbe	rs72551348
MSV3d	rs72551348
GWAS Ctlg	rs72551348

Max Magnitude

3

aka c.989A>G (p.Gln330Arg or Q331R)

This variant defines the UGT1A1*9 allele, reported to be associated with Crigler-Najjar syndrome type II, a recessively inherited condition.

See also OMIM 191740.0005

23andMe name: i5048984

OMIM	191740
Desc
Variant	0005
Related	also

ClinVar
Risk	rs72551348(G;G)
Alt	rs72551348(G;G)
Reference	Rs72551348(A;A)
Significance	Pathogenic
Disease	Crigler-Najjar syndrome
Variation	info
Gene	UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7
CLNDBN	Crigler-Najjar syndrome, type II
Reversed	0
HGVS	NC_000002.11:g.234675807A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013058.16,