rs587777376
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777376(G;T) |
Make rs587777376(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 21126167 |
Gene | KIZ |
is a | snp |
is | mentioned by |
dbSNP | rs587777376 |
dbSNP (classic) | rs587777376 |
ClinGen | rs587777376 |
ebi | rs587777376 |
HLI | rs587777376 |
Exac | rs587777376 |
Gnomad | rs587777376 |
Varsome | rs587777376 |
LitVar | rs587777376 |
Map | rs587777376 |
PheGenI | rs587777376 |
Biobank | rs587777376 |
1000 genomes | rs587777376 |
hgdp | rs587777376 |
ensembl | rs587777376 |
geneview | rs587777376 |
scholar | rs587777376 |
rs587777376 | |
pharmgkb | rs587777376 |
gwascentral | rs587777376 |
openSNP | rs587777376 |
23andMe | rs587777376 |
SNPshot | rs587777376 |
SNPdbe | rs587777376 |
MSV3d | rs587777376 |
GWAS Ctlg | rs587777376 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777376(T;T) |
Alt | rs587777376(T;T) |
Reference | Rs587777376(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 69 |
Variation | info |
Gene | KIZ |
CLNDBN | Retinitis pigmentosa 69 |
Reversed | 0 |
HGVS | NC_000020.10:g.21106808G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000116209.2, |