rs1616940
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5 | Polycystic Kidney Disease (predicted) |
(T;T) | 0 | common/normal |
Make rs1616940(C;C) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 16 |
Position | 2114843 |
Gene | PKD1 |
is a | snp |
is | mentioned by |
dbSNP | rs1616940 |
dbSNP (classic) | rs1616940 |
ClinGen | rs1616940 |
ebi | rs1616940 |
HLI | rs1616940 |
Exac | rs1616940 |
Gnomad | rs1616940 |
Varsome | rs1616940 |
LitVar | rs1616940 |
Map | rs1616940 |
PheGenI | rs1616940 |
Biobank | rs1616940 |
1000 genomes | rs1616940 |
hgdp | rs1616940 |
ensembl | rs1616940 |
geneview | rs1616940 |
scholar | rs1616940 |
rs1616940 | |
pharmgkb | rs1616940 |
gwascentral | rs1616940 |
openSNP | rs1616940 |
23andMe | rs1616940 |
SNPshot | rs1616940 |
SNPdbe | rs1616940 |
MSV3d | rs1616940 |
GWAS Ctlg | rs1616940 |
Max Magnitude | 5 |
NM_001009944.2:c.2180T>C
The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database.