rs202138002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202138002(A;A) |
Make rs202138002(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 132621535 |
Gene | P2RX2 |
is a | snp |
is | mentioned by |
dbSNP | rs202138002 |
dbSNP (classic) | rs202138002 |
ClinGen | rs202138002 |
ebi | rs202138002 |
HLI | rs202138002 |
Exac | rs202138002 |
Gnomad | rs202138002 |
Varsome | rs202138002 |
LitVar | rs202138002 |
Map | rs202138002 |
PheGenI | rs202138002 |
Biobank | rs202138002 |
1000 genomes | rs202138002 |
hgdp | rs202138002 |
ensembl | rs202138002 |
geneview | rs202138002 |
scholar | rs202138002 |
rs202138002 | |
pharmgkb | rs202138002 |
gwascentral | rs202138002 |
openSNP | rs202138002 |
23andMe | rs202138002 |
SNPshot | rs202138002 |
SNPdbe | rs202138002 |
MSV3d | rs202138002 |
GWAS Ctlg | rs202138002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202138002(A;A) rs202138002(C;C) |
Alt | rs202138002(A;A) rs202138002(C;C) |
Reference | Rs202138002(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | P2RX2 |
CLNDBN | Deafness, autosomal dominant 41 |
Reversed | 0 |
HGVS | NC_000012.11:g.133198121G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000143843.2, |