rs527236081
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs527236081(C;T) |
Make rs527236081(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 10803887 |
Gene | MAK |
is a | snp |
is | mentioned by |
dbSNP | rs527236081 |
dbSNP (classic) | rs527236081 |
ClinGen | rs527236081 |
ebi | rs527236081 |
HLI | rs527236081 |
Exac | rs527236081 |
Gnomad | rs527236081 |
Varsome | rs527236081 |
LitVar | rs527236081 |
Map | rs527236081 |
PheGenI | rs527236081 |
Biobank | rs527236081 |
1000 genomes | rs527236081 |
hgdp | rs527236081 |
ensembl | rs527236081 |
geneview | rs527236081 |
scholar | rs527236081 |
rs527236081 | |
pharmgkb | rs527236081 |
gwascentral | rs527236081 |
openSNP | rs527236081 |
23andMe | rs527236081 |
SNPshot | rs527236081 |
SNPdbe | rs527236081 |
MSV3d | rs527236081 |
GWAS Ctlg | rs527236081 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236081(T;T) |
Alt | rs527236081(T;T) |
Reference | Rs527236081(C;C) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | MAK |
CLNDBN | Retinitis pigmentosa |
Reversed | 1 |
HGVS | NC_000006.11:g.10804120G>A |
CLNSRC | ClinVar |
CLNACC | RCV000132644.1, |