rs760040426
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs760040426(C;C) |
Make rs760040426(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 24302046 |
Gene | DCDC2 |
is a | snp |
is | mentioned by |
dbSNP | rs760040426 |
dbSNP (classic) | rs760040426 |
ClinGen | rs760040426 |
ebi | rs760040426 |
HLI | rs760040426 |
Exac | rs760040426 |
Gnomad | rs760040426 |
Varsome | rs760040426 |
LitVar | rs760040426 |
Map | rs760040426 |
PheGenI | rs760040426 |
Biobank | rs760040426 |
1000 genomes | rs760040426 |
hgdp | rs760040426 |
ensembl | rs760040426 |
geneview | rs760040426 |
scholar | rs760040426 |
rs760040426 | |
pharmgkb | rs760040426 |
gwascentral | rs760040426 |
openSNP | rs760040426 |
23andMe | rs760040426 |
SNPshot | rs760040426 |
SNPdbe | rs760040426 |
MSV3d | rs760040426 |
GWAS Ctlg | rs760040426 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760040426(C;C) |
Alt | rs760040426(C;C) |
Reference | Rs760040426(T;T) |
Significance | Pathogenic |
Disease | Nephronophthisis 19 |
Variation | info |
Gene | DCDC2 |
CLNDBN | Nephronophthisis 19 |
Reversed | 0 |
HGVS | NC_000006.11:g.24302274T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000157644.4, |