rs121907898
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121907898(A;A) |
Make rs121907898(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 110201484 |
Gene | NPHP1 |
is a | snp |
is | mentioned by |
dbSNP | rs121907898 |
dbSNP (classic) | rs121907898 |
ClinGen | rs121907898 |
ebi | rs121907898 |
HLI | rs121907898 |
Exac | rs121907898 |
Gnomad | rs121907898 |
Varsome | rs121907898 |
LitVar | rs121907898 |
Map | rs121907898 |
PheGenI | rs121907898 |
Biobank | rs121907898 |
1000 genomes | rs121907898 |
hgdp | rs121907898 |
ensembl | rs121907898 |
geneview | rs121907898 |
scholar | rs121907898 |
rs121907898 | |
pharmgkb | rs121907898 |
gwascentral | rs121907898 |
openSNP | rs121907898 |
23andMe | rs121907898 |
SNPshot | rs121907898 |
SNPdbe | rs121907898 |
MSV3d | rs121907898 |
GWAS Ctlg | rs121907898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121907898(A;A) |
Alt | rs121907898(A;A) |
Reference | Rs121907898(T;T) |
Significance | Pathogenic |
Disease | Nephronophthisis 1 Nephronophthisis |
Variation | info |
Gene | NPHP1 |
CLNDBN | Nephronophthisis 1 Nephronophthisis |
Reversed | 1 |
HGVS | NC_000002.11:g.110959061A>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003684.2, RCV000234828.1, |