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, |