rs730880299
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730880299(A;T) |
Make rs730880299(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 24290987 |
Gene | DCDC2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880299 |
dbSNP (classic) | rs730880299 |
ClinGen | rs730880299 |
ebi | rs730880299 |
HLI | rs730880299 |
Exac | rs730880299 |
Gnomad | rs730880299 |
Varsome | rs730880299 |
LitVar | rs730880299 |
Map | rs730880299 |
PheGenI | rs730880299 |
Biobank | rs730880299 |
1000 genomes | rs730880299 |
hgdp | rs730880299 |
ensembl | rs730880299 |
geneview | rs730880299 |
scholar | rs730880299 |
rs730880299 | |
pharmgkb | rs730880299 |
gwascentral | rs730880299 |
openSNP | rs730880299 |
23andMe | rs730880299 |
SNPshot | rs730880299 |
SNPdbe | rs730880299 |
MSV3d | rs730880299 |
GWAS Ctlg | rs730880299 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880299(T;T) |
Alt | rs730880299(T;T) |
Reference | Rs730880299(A;A) |
Significance | Pathogenic |
Disease | Nephronophthisis 19 Sclerosing cholangitis |
Variation | info |
Gene | DCDC2 |
CLNDBN | Nephronophthisis 19 Sclerosing cholangitis, neonatal |
Reversed | 1 |
HGVS | NC_000006.11:g.24291215T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000157642.4, RCV000477678.1, |