rs61729287
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | Carrier for a recessive mutation for deafness |
Make rs61729287(C;G) |
Make rs61729287(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 80484531 |
Gene | PTPRQ |
is a | snp |
is | mentioned by |
dbSNP | rs61729287 |
dbSNP (classic) | rs61729287 |
ClinGen | rs61729287 |
ebi | rs61729287 |
HLI | rs61729287 |
Exac | rs61729287 |
Gnomad | rs61729287 |
Varsome | rs61729287 |
LitVar | rs61729287 |
Map | rs61729287 |
PheGenI | rs61729287 |
Biobank | rs61729287 |
1000 genomes | rs61729287 |
hgdp | rs61729287 |
ensembl | rs61729287 |
geneview | rs61729287 |
scholar | rs61729287 |
rs61729287 | |
pharmgkb | rs61729287 |
gwascentral | rs61729287 |
openSNP | rs61729287 |
23andMe | rs61729287 |
SNPshot | rs61729287 |
SNPdbe | rs61729287 |
MSV3d | rs61729287 |
GWAS Ctlg | rs61729287 |
Max Magnitude | 3 |
The rare (T) allele for this PTPRQ gene variant is reported to be causative for a recessive form of deafness; see PTPRQ for details and sources.