rs1042640
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1042640(C;C) |
Make rs1042640(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 233772898 |
Gene | MROH2A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 |
is a | snp |
is | mentioned by |
dbSNP | rs1042640 |
dbSNP (classic) | rs1042640 |
ClinGen | rs1042640 |
ebi | rs1042640 |
HLI | rs1042640 |
Exac | rs1042640 |
Gnomad | rs1042640 |
Varsome | rs1042640 |
LitVar | rs1042640 |
Map | rs1042640 |
PheGenI | rs1042640 |
Biobank | rs1042640 |
1000 genomes | rs1042640 |
hgdp | rs1042640 |
ensembl | rs1042640 |
geneview | rs1042640 |
scholar | rs1042640 |
rs1042640 | |
pharmgkb | rs1042640 |
gwascentral | rs1042640 |
openSNP | rs1042640 |
23andMe | rs1042640 |
SNPshot | rs1042640 |
SNPdbe | rs1042640 |
MSV3d | rs1042640 |
GWAS Ctlg | rs1042640 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
[PMID 24856997] [Mutations in UGT1A1 gene in neonates with hyperbilirubinemia of Guangxi Heiyi Zhuang nationality]
ClinVar | |
---|---|
Risk | rs1042640(C;C) rs1042640(T;T) |
Alt | rs1042640(C;C) rs1042640(T;T) |
Reference | Rs1042640(G;G) |
Significance | Non-pathogenic |
Disease | Crigler-Najjar syndrome Hyperbilirubinemia transient familial neonatal Gilbert's syndrome |
Variation | info |
Gene | UGT1A5 UGT1A9 UGT1A3 UGT1A6 UGT1A4 UGT1A1 UGT1A10 UGT1A8 UGT1A7 |
CLNDBN | Crigler-Najjar syndrome Hyperbilirubinemia transient familial neonatal Gilbert's syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.234681544G>C |
CLNSRC | |
CLNACC | RCV000278221.1, RCV000338732.1, RCV000404223.1, |