rs200844390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200844390(C;T) |
Make rs200844390(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 100292952 |
Gene | INVS |
is a | snp |
is | mentioned by |
dbSNP | rs200844390 |
dbSNP (classic) | rs200844390 |
ClinGen | rs200844390 |
ebi | rs200844390 |
HLI | rs200844390 |
Exac | rs200844390 |
Gnomad | rs200844390 |
Varsome | rs200844390 |
LitVar | rs200844390 |
Map | rs200844390 |
PheGenI | rs200844390 |
Biobank | rs200844390 |
1000 genomes | rs200844390 |
hgdp | rs200844390 |
ensembl | rs200844390 |
geneview | rs200844390 |
scholar | rs200844390 |
rs200844390 | |
pharmgkb | rs200844390 |
gwascentral | rs200844390 |
openSNP | rs200844390 |
23andMe | rs200844390 |
SNPshot | rs200844390 |
SNPdbe | rs200844390 |
MSV3d | rs200844390 |
GWAS Ctlg | rs200844390 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200844390(A;A) rs200844390(T;T) |
Alt | rs200844390(A;A) rs200844390(T;T) |
Reference | Rs200844390(C;C) |
Significance | Pathogenic |
Disease | Infantile nephronophthisis Nephronophthisis |
Variation | info |
Gene | INVS |
CLNDBN | Infantile nephronophthisis Nephronophthisis |
Reversed | 0 |
HGVS | NC_000009.11:g.103055234C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012740.26, RCV000234825.2, |