rs757704417
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AC;AC) | 0 | common in clinvar |
Make rs757704417(-;-) |
Make rs757704417(-;AC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 24357627 |
Gene | DCDC2, KAAG1 |
is a | snp |
is | mentioned by |
dbSNP | rs757704417 |
dbSNP (classic) | rs757704417 |
ClinGen | rs757704417 |
ebi | rs757704417 |
HLI | rs757704417 |
Exac | rs757704417 |
Gnomad | rs757704417 |
Varsome | rs757704417 |
LitVar | rs757704417 |
Map | rs757704417 |
PheGenI | rs757704417 |
Biobank | rs757704417 |
1000 genomes | rs757704417 |
hgdp | rs757704417 |
ensembl | rs757704417 |
geneview | rs757704417 |
scholar | rs757704417 |
rs757704417 | |
pharmgkb | rs757704417 |
gwascentral | rs757704417 |
openSNP | rs757704417 |
23andMe | rs757704417 |
SNPshot | rs757704417 |
SNPdbe | rs757704417 |
MSV3d | rs757704417 |
GWAS Ctlg | rs757704417 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757704417(-;-) |
Alt | rs757704417(-;-) |
Reference | Rs757704417(AC;AC) |
Significance | Pathogenic |
Disease | Nephronophthisis 19 Sclerosing cholangitis |
Variation | info |
Gene | KAAG1 DCDC2 |
CLNDBN | Nephronophthisis 19 Sclerosing cholangitis, neonatal |
Reversed | 0 |
HGVS | NC_000006.11:g.24357855_24357856delAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000157643.4, RCV000477717.1, |