rs137853113
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137853113(C;T) |
Make rs137853113(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 23140784 |
Gene | KLHL7 |
is a | snp |
is | mentioned by |
dbSNP | rs137853113 |
dbSNP (classic) | rs137853113 |
ClinGen | rs137853113 |
ebi | rs137853113 |
HLI | rs137853113 |
Exac | rs137853113 |
Gnomad | rs137853113 |
Varsome | rs137853113 |
LitVar | rs137853113 |
Map | rs137853113 |
PheGenI | rs137853113 |
Biobank | rs137853113 |
1000 genomes | rs137853113 |
hgdp | rs137853113 |
ensembl | rs137853113 |
geneview | rs137853113 |
scholar | rs137853113 |
rs137853113 | |
pharmgkb | rs137853113 |
gwascentral | rs137853113 |
openSNP | rs137853113 |
23andMe | rs137853113 |
SNPshot | rs137853113 |
SNPdbe | rs137853113 |
MSV3d | rs137853113 |
GWAS Ctlg | rs137853113 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853113(T;T) |
Alt | rs137853113(T;T) |
Reference | Rs137853113(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 42 not provided |
Variation | info |
Gene | KLHL7 |
CLNDBN | Retinitis pigmentosa 42 not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.23180403C>T |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001064.2, RCV000079374.4, |