rs104893658
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs104893658(G;G) |
Make rs104893658(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 113246760 |
Gene | PAX8, PAX8-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs104893658 |
dbSNP (classic) | rs104893658 |
ClinGen | rs104893658 |
ebi | rs104893658 |
HLI | rs104893658 |
Exac | rs104893658 |
Gnomad | rs104893658 |
Varsome | rs104893658 |
LitVar | rs104893658 |
Map | rs104893658 |
PheGenI | rs104893658 |
Biobank | rs104893658 |
1000 genomes | rs104893658 |
hgdp | rs104893658 |
ensembl | rs104893658 |
geneview | rs104893658 |
scholar | rs104893658 |
rs104893658 | |
pharmgkb | rs104893658 |
gwascentral | rs104893658 |
openSNP | rs104893658 |
23andMe | rs104893658 |
SNPshot | rs104893658 |
SNPdbe | rs104893658 |
MSV3d | rs104893658 |
GWAS Ctlg | rs104893658 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893658(G;G) |
Alt | rs104893658(G;G) |
Reference | Rs104893658(T;T) |
Significance | Pathogenic |
Disease | Thyroid agenesis |
Variation | info |
Gene | PAX8 PAX8-AS1 |
CLNDBN | Thyroid agenesis |
Reversed | 1 |
HGVS | NC_000002.11:g.114004337A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014795.24, |