rs121917720
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121917720(C;T) |
Make rs121917720(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 36663031 |
Gene | LOC105370455, PAX9 |
is a | snp |
is | mentioned by |
dbSNP | rs121917720 |
dbSNP (classic) | rs121917720 |
ClinGen | rs121917720 |
ebi | rs121917720 |
HLI | rs121917720 |
Exac | rs121917720 |
Gnomad | rs121917720 |
Varsome | rs121917720 |
LitVar | rs121917720 |
Map | rs121917720 |
PheGenI | rs121917720 |
Biobank | rs121917720 |
1000 genomes | rs121917720 |
hgdp | rs121917720 |
ensembl | rs121917720 |
geneview | rs121917720 |
scholar | rs121917720 |
rs121917720 | |
pharmgkb | rs121917720 |
gwascentral | rs121917720 |
openSNP | rs121917720 |
23andMe | rs121917720 |
SNPshot | rs121917720 |
SNPdbe | rs121917720 |
MSV3d | rs121917720 |
GWAS Ctlg | rs121917720 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917720(T;T) |
Alt | rs121917720(T;T) |
Reference | Rs121917720(C;C) |
Significance | Pathogenic |
Disease | Tooth agenesis |
Variation | info |
Gene | PAX9 |
CLNDBN | Tooth agenesis, selective, 3 |
Reversed | 0 |
HGVS | NC_000014.8:g.37132236C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014791.27, |