rs121918043
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 5 | Polycystic kidney disease, autosomal dominant form (predicted) |
Make rs121918043(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 88046854 |
Gene | PKD2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918043 |
dbSNP (classic) | rs121918043 |
ClinGen | rs121918043 |
ebi | rs121918043 |
HLI | rs121918043 |
Exac | rs121918043 |
Gnomad | rs121918043 |
Varsome | rs121918043 |
LitVar | rs121918043 |
Map | rs121918043 |
PheGenI | rs121918043 |
Biobank | rs121918043 |
1000 genomes | rs121918043 |
hgdp | rs121918043 |
ensembl | rs121918043 |
geneview | rs121918043 |
scholar | rs121918043 |
rs121918043 | |
pharmgkb | rs121918043 |
gwascentral | rs121918043 |
openSNP | rs121918043 |
23andMe | rs121918043 |
SNPshot | rs121918043 |
SNPdbe | rs121918043 |
MSV3d | rs121918043 |
GWAS Ctlg | rs121918043 |
Max Magnitude | 5 |
aka c.1532A>T (p.Asp511Val)
23andMe name: i5002463
ClinVar | |
---|---|
Risk | rs121918043(T;T) |
Alt | rs121918043(T;T) |
Reference | Rs121918043(A;A) |
Significance | Pathogenic |
Disease | Polycystic kidney disease 2 |
Variation | info |
Gene | PKD2 |
CLNDBN | Polycystic kidney disease 2 |
Reversed | 0 |
HGVS | NC_000004.11:g.88968006A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014479.27, |