rs1050411259
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1050411259(A;T) |
Make rs1050411259(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 6 |
Position | 24278081 |
Gene | DCDC2 |
is a | snp |
is | mentioned by |
dbSNP | rs1050411259 |
dbSNP (classic) | rs1050411259 |
ClinGen | rs1050411259 |
ebi | rs1050411259 |
HLI | rs1050411259 |
Exac | rs1050411259 |
Gnomad | rs1050411259 |
Varsome | rs1050411259 |
LitVar | rs1050411259 |
Map | rs1050411259 |
PheGenI | rs1050411259 |
Biobank | rs1050411259 |
1000 genomes | rs1050411259 |
hgdp | rs1050411259 |
ensembl | rs1050411259 |
geneview | rs1050411259 |
scholar | rs1050411259 |
rs1050411259 | |
pharmgkb | rs1050411259 |
gwascentral | rs1050411259 |
openSNP | rs1050411259 |
23andMe | rs1050411259 |
SNPshot | rs1050411259 |
SNPdbe | rs1050411259 |
MSV3d | rs1050411259 |
GWAS Ctlg | rs1050411259 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1050411259(T;T) |
Alt | rs1050411259(T;T) |
Reference | Rs1050411259(A;A) |
Significance | Pathogenic |
Disease | Sclerosing cholangitis |
Variation | info |
Gene | DCDC2 |
CLNDBN | Sclerosing cholangitis, neonatal |
Reversed | 0 |
HGVS | NC_000006.11:g.24278309A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000477711.1, |