rs118203915
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs118203915(C;G) |
Make rs118203915(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 71572224 |
Gene | TAT, TAT-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs118203915 |
dbSNP (classic) | rs118203915 |
ClinGen | rs118203915 |
ebi | rs118203915 |
HLI | rs118203915 |
Exac | rs118203915 |
Gnomad | rs118203915 |
Varsome | rs118203915 |
LitVar | rs118203915 |
Map | rs118203915 |
PheGenI | rs118203915 |
Biobank | rs118203915 |
1000 genomes | rs118203915 |
hgdp | rs118203915 |
ensembl | rs118203915 |
geneview | rs118203915 |
scholar | rs118203915 |
rs118203915 | |
pharmgkb | rs118203915 |
gwascentral | rs118203915 |
openSNP | rs118203915 |
23andMe | rs118203915 |
SNPshot | rs118203915 |
SNPdbe | rs118203915 |
MSV3d | rs118203915 |
GWAS Ctlg | rs118203915 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118203915(G;G) |
Alt | rs118203915(G;G) |
Reference | Rs118203915(C;C) |
Significance | Pathogenic |
Disease | Tyrosinemia type 2 |
Variation | info |
Gene | TAT-AS1 TAT |
CLNDBN | Tyrosinemia type 2 |
Reversed | 1 |
HGVS | NC_000016.9:g.71606127G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000430.3, |