rs777849213
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs777849213(A;A) |
Make rs777849213(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 69398758 |
Gene | HK1 |
is a | snp |
is | mentioned by |
dbSNP | rs777849213 |
dbSNP (classic) | rs777849213 |
ClinGen | rs777849213 |
ebi | rs777849213 |
HLI | rs777849213 |
Exac | rs777849213 |
Gnomad | rs777849213 |
Varsome | rs777849213 |
LitVar | rs777849213 |
Map | rs777849213 |
PheGenI | rs777849213 |
Biobank | rs777849213 |
1000 genomes | rs777849213 |
hgdp | rs777849213 |
ensembl | rs777849213 |
geneview | rs777849213 |
scholar | rs777849213 |
rs777849213 | |
pharmgkb | rs777849213 |
gwascentral | rs777849213 |
openSNP | rs777849213 |
23andMe | rs777849213 |
SNPshot | rs777849213 |
SNPdbe | rs777849213 |
MSV3d | rs777849213 |
GWAS Ctlg | rs777849213 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777849213(A;A) |
Alt | rs777849213(A;A) |
Reference | Rs777849213(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 79 |
Variation | info |
Gene | HK1 |
CLNDBN | Retinitis pigmentosa 79 |
Reversed | 0 |
HGVS | NC_000010.10:g.71158514G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000487470.1, |