rs34993780

Orientation

plus

Stabilized

plus

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

Make rs34993780(G;G)

Make rs34993780(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

233772413

Gene	MROH2A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9

is a	snp
is	mentioned by
dbSNP	rs34993780
dbSNP (classic)	rs34993780
ClinGen	rs34993780
ebi	rs34993780
HLI	rs34993780
Exac	rs34993780
Gnomad	rs34993780
Varsome	rs34993780
LitVar	rs34993780
Map	rs34993780
PheGenI	rs34993780
Biobank	rs34993780
1000 genomes	rs34993780
hgdp	rs34993780
ensembl	rs34993780
geneview	rs34993780
scholar	rs34993780
google	rs34993780
pharmgkb	rs34993780
gwascentral	rs34993780
openSNP	rs34993780
23andMe	rs34993780
SNPshot	rs34993780
SNPdbe	rs34993780
MSV3d	rs34993780
GWAS Ctlg	rs34993780

GMAF

0.0004591

Max Magnitude

0

OMIM	191740
Desc
Variant	0017
Related	also

ClinVar
Risk	rs34993780(A;A) rs34993780(C;C) rs34993780(G;G)
Alt	rs34993780(A;A) rs34993780(C;C) rs34993780(G;G)
Reference	Rs34993780(T;T)
Significance	Pathogenic
Disease	Lucey-Driscoll syndrome Crigler-Najjar syndrome Hyperbilirubinemia
Variation	info
Gene	UGT1A5 UGT1A3 UGT1A9 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7
CLNDBN	Lucey-Driscoll syndrome Crigler-Najjar syndrome, type II Hyperbilirubinemia
Reversed	0
HGVS	NC_000002.11:g.234681059T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013073.17, RCV000013074.17, RCV000147900.1,

[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 19572200] Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.