rs119489105
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119489105(C;T) |
Make rs119489105(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 112008466 |
Gene | MERTK |
is a | snp |
is | mentioned by |
dbSNP | rs119489105 |
dbSNP (classic) | rs119489105 |
ClinGen | rs119489105 |
ebi | rs119489105 |
HLI | rs119489105 |
Exac | rs119489105 |
Gnomad | rs119489105 |
Varsome | rs119489105 |
LitVar | rs119489105 |
Map | rs119489105 |
PheGenI | rs119489105 |
Biobank | rs119489105 |
1000 genomes | rs119489105 |
hgdp | rs119489105 |
ensembl | rs119489105 |
geneview | rs119489105 |
scholar | rs119489105 |
rs119489105 | |
pharmgkb | rs119489105 |
gwascentral | rs119489105 |
openSNP | rs119489105 |
23andMe | rs119489105 |
SNPshot | rs119489105 |
SNPdbe | rs119489105 |
MSV3d | rs119489105 |
GWAS Ctlg | rs119489105 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119489105(T;T) |
Alt | rs119489105(T;T) |
Reference | Rs119489105(C;C) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 38 |
Variation | info |
Gene | MERTK |
CLNDBN | Retinitis pigmentosa 38 |
Reversed | 0 |
HGVS | NC_000002.11:g.112766043C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005733.4, |