rs587777159
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
(CAG;CAG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TG;TG) | 0 | common in clinvar |
Make rs587777159(-;-) |
Make rs587777159(-;TG) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 442028 |
Gene | TBC1D20 |
is a | snp |
is | mentioned by |
dbSNP | rs587777159 |
dbSNP (classic) | rs587777159 |
ClinGen | rs587777159 |
ebi | rs587777159 |
HLI | rs587777159 |
Exac | rs587777159 |
Gnomad | rs587777159 |
Varsome | rs587777159 |
LitVar | rs587777159 |
Map | rs587777159 |
PheGenI | rs587777159 |
Biobank | rs587777159 |
1000 genomes | rs587777159 |
hgdp | rs587777159 |
ensembl | rs587777159 |
geneview | rs587777159 |
scholar | rs587777159 |
rs587777159 | |
pharmgkb | rs587777159 |
gwascentral | rs587777159 |
openSNP | rs587777159 |
23andMe | rs587777159 |
SNPshot | rs587777159 |
SNPdbe | rs587777159 |
MSV3d | rs587777159 |
GWAS Ctlg | rs587777159 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777159(TG;TG) rs587777159(-;-) |
Alt | Rs587777159(TG;TG) rs587777159(-;-) |
Reference | Rs587777159(CA;CA) |
Significance | Pathogenic |
Disease | Warburg micro syndrome 4 |
Variation | info |
Gene | TBC1D20 |
CLNDBN | Warburg micro syndrome 4 |
Reversed | 1 |
HGVS | NC_000020.10:g.422672_422673delTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087140.3, |