rs1042640142
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1042640142(C;G) |
| Make rs1042640142(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 6 |
| Position | 24357700 |
| Gene | DCDC2, KAAG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042640142 |
| dbSNP (classic) | rs1042640142 |
| ClinGen | rs1042640142 |
| ebi | rs1042640142 |
| HLI | rs1042640142 |
| Exac | rs1042640142 |
| Gnomad | rs1042640142 |
| Varsome | rs1042640142 |
| LitVar | rs1042640142 |
| Map | rs1042640142 |
| PheGenI | rs1042640142 |
| Biobank | rs1042640142 |
| 1000 genomes | rs1042640142 |
| hgdp | rs1042640142 |
| ensembl | rs1042640142 |
| geneview | rs1042640142 |
| scholar | rs1042640142 |
| rs1042640142 | |
| pharmgkb | rs1042640142 |
| gwascentral | rs1042640142 |
| openSNP | rs1042640142 |
| 23andMe | rs1042640142 |
| SNPshot | rs1042640142 |
| SNPdbe | rs1042640142 |
| MSV3d | rs1042640142 |
| GWAS Ctlg | rs1042640142 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1042640142(G;G) rs1042640142(T;T) |
| Alt | rs1042640142(G;G) rs1042640142(T;T) |
| Reference | Rs1042640142(C;C) |
| Significance | Pathogenic |
| Disease | Sclerosing cholangitis |
| Variation | info |
| Gene | KAAG1 DCDC2 |
| CLNDBN | Sclerosing cholangitis, neonatal |
| Reversed | 0 |
| HGVS | NC_000006.11:g.24357928C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000477748.1, |
