rs527236084
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs527236084(A;A) |
Make rs527236084(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 111994404 |
Gene | MERTK |
is a | snp |
is | mentioned by |
dbSNP | rs527236084 |
dbSNP (classic) | rs527236084 |
ClinGen | rs527236084 |
ebi | rs527236084 |
HLI | rs527236084 |
Exac | rs527236084 |
Gnomad | rs527236084 |
Varsome | rs527236084 |
LitVar | rs527236084 |
Map | rs527236084 |
PheGenI | rs527236084 |
Biobank | rs527236084 |
1000 genomes | rs527236084 |
hgdp | rs527236084 |
ensembl | rs527236084 |
geneview | rs527236084 |
scholar | rs527236084 |
rs527236084 | |
pharmgkb | rs527236084 |
gwascentral | rs527236084 |
openSNP | rs527236084 |
23andMe | rs527236084 |
SNPshot | rs527236084 |
SNPdbe | rs527236084 |
MSV3d | rs527236084 |
GWAS Ctlg | rs527236084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs527236084(A;A) |
Alt | rs527236084(A;A) |
Reference | Rs527236084(G;G) |
Significance | Probable-Pathogenic |
Disease | Retinitis pigmentosa |
Variation | info |
Gene | MERTK |
CLNDBN | Retinitis pigmentosa |
Reversed | 0 |
HGVS | NC_000002.11:g.112751981G>A |
CLNSRC | ClinVar |
CLNACC | RCV000132663.1, |