rs758558609
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs758558609(-;-) |
Make rs758558609(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 132722083 |
Gene | NPHP3, NPHP3-ACAD11, NPHP3-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs758558609 |
dbSNP (classic) | rs758558609 |
ClinGen | rs758558609 |
ebi | rs758558609 |
HLI | rs758558609 |
Exac | rs758558609 |
Gnomad | rs758558609 |
Varsome | rs758558609 |
LitVar | rs758558609 |
Map | rs758558609 |
PheGenI | rs758558609 |
Biobank | rs758558609 |
1000 genomes | rs758558609 |
hgdp | rs758558609 |
ensembl | rs758558609 |
geneview | rs758558609 |
scholar | rs758558609 |
rs758558609 | |
pharmgkb | rs758558609 |
gwascentral | rs758558609 |
openSNP | rs758558609 |
23andMe | rs758558609 |
SNPshot | rs758558609 |
SNPdbe | rs758558609 |
MSV3d | rs758558609 |
GWAS Ctlg | rs758558609 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758558609(-;-) |
Alt | rs758558609(-;-) |
Reference | Rs758558609(G;G) |
Significance | Pathogenic |
Disease | Adolescent nephronophthisis Renal-hepatic-pancreatic dysplasia |
Variation | info |
Gene | NPHP3-AS1 NPHP3 NPHP3-ACAD11 |
CLNDBN | Adolescent nephronophthisis Renal-hepatic-pancreatic dysplasia |
Reversed | 0 |
HGVS | NC_000003.11:g.132440927delG |
CLNSRC | |
CLNACC | RCV000173578.1, RCV000173579.1, |