rs200585917
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200585917(A;A) |
Make rs200585917(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 49636414 |
Gene | ZNF423 |
is a | snp |
is | mentioned by |
dbSNP | rs200585917 |
dbSNP (classic) | rs200585917 |
ClinGen | rs200585917 |
ebi | rs200585917 |
HLI | rs200585917 |
Exac | rs200585917 |
Gnomad | rs200585917 |
Varsome | rs200585917 |
LitVar | rs200585917 |
Map | rs200585917 |
PheGenI | rs200585917 |
Biobank | rs200585917 |
1000 genomes | rs200585917 |
hgdp | rs200585917 |
ensembl | rs200585917 |
geneview | rs200585917 |
scholar | rs200585917 |
rs200585917 | |
pharmgkb | rs200585917 |
gwascentral | rs200585917 |
openSNP | rs200585917 |
23andMe | rs200585917 |
SNPshot | rs200585917 |
SNPdbe | rs200585917 |
MSV3d | rs200585917 |
GWAS Ctlg | rs200585917 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200585917(A;A) rs200585917(T;T) |
Alt | rs200585917(A;A) rs200585917(T;T) |
Reference | Rs200585917(G;G) |
Significance | Pathogenic |
Disease | Nephronophthisis 14 |
Variation | info |
Gene | ZNF423 |
CLNDBN | Nephronophthisis 14 |
Reversed | 0 |
HGVS | NC_000016.9:g.49670325G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030826.3, |