rs201105857
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201105857(C;T) |
Make rs201105857(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 178222564 |
Gene | PHYKPL |
is a | snp |
is | mentioned by |
dbSNP | rs201105857 |
dbSNP (classic) | rs201105857 |
ClinGen | rs201105857 |
ebi | rs201105857 |
HLI | rs201105857 |
Exac | rs201105857 |
Gnomad | rs201105857 |
Varsome | rs201105857 |
LitVar | rs201105857 |
Map | rs201105857 |
PheGenI | rs201105857 |
Biobank | rs201105857 |
1000 genomes | rs201105857 |
hgdp | rs201105857 |
ensembl | rs201105857 |
geneview | rs201105857 |
scholar | rs201105857 |
rs201105857 | |
pharmgkb | rs201105857 |
gwascentral | rs201105857 |
openSNP | rs201105857 |
23andMe | rs201105857 |
SNPshot | rs201105857 |
SNPdbe | rs201105857 |
MSV3d | rs201105857 |
GWAS Ctlg | rs201105857 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201105857(T;T) |
Alt | rs201105857(T;T) |
Reference | Rs201105857(C;C) |
Significance | Pathogenic |
Disease | Phosphohydroxylysinuria |
Variation | info |
Gene | PHYKPL |
CLNDBN | Phosphohydroxylysinuria |
Reversed | 0 |
HGVS | NC_000005.9:g.177649565C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032769.5, |