rs2491097
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common on affy axiom data |
Make rs2491097(C;T) |
Make rs2491097(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 100240169 |
Gene | INVS |
is a | snp |
is | mentioned by |
dbSNP | rs2491097 |
dbSNP (classic) | rs2491097 |
ClinGen | rs2491097 |
ebi | rs2491097 |
HLI | rs2491097 |
Exac | rs2491097 |
Gnomad | rs2491097 |
Varsome | rs2491097 |
LitVar | rs2491097 |
Map | rs2491097 |
PheGenI | rs2491097 |
Biobank | rs2491097 |
1000 genomes | rs2491097 |
hgdp | rs2491097 |
ensembl | rs2491097 |
geneview | rs2491097 |
scholar | rs2491097 |
rs2491097 | |
pharmgkb | rs2491097 |
gwascentral | rs2491097 |
openSNP | rs2491097 |
23andMe | rs2491097 |
SNPshot | rs2491097 |
SNPdbe | rs2491097 |
MSV3d | rs2491097 |
GWAS Ctlg | rs2491097 |
GMAF | 0.004591 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2491097(T;T) |
Alt | rs2491097(T;T) |
Reference | Rs2491097(C;C) |
Significance | Non-pathogenic |
Disease | not specified Nephronophthisis |
Variation | info |
Gene | INVS |
CLNDBN | not specified Nephronophthisis |
Reversed | 0 |
HGVS | NC_000009.11:g.103002451C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000081631.5, RCV000473554.1, |