rs797044642
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044642(-;ATATG) |
Make rs797044642(ATATG;ATATG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 31789960 |
Gene | PAX6 |
is a | snp |
is | mentioned by |
dbSNP | rs797044642 |
dbSNP (classic) | rs797044642 |
ClinGen | rs797044642 |
ebi | rs797044642 |
HLI | rs797044642 |
Exac | rs797044642 |
Gnomad | rs797044642 |
Varsome | rs797044642 |
LitVar | rs797044642 |
Map | rs797044642 |
PheGenI | rs797044642 |
Biobank | rs797044642 |
1000 genomes | rs797044642 |
hgdp | rs797044642 |
ensembl | rs797044642 |
geneview | rs797044642 |
scholar | rs797044642 |
rs797044642 | |
pharmgkb | rs797044642 |
gwascentral | rs797044642 |
openSNP | rs797044642 |
23andMe | rs797044642 |
SNPshot | rs797044642 |
SNPdbe | rs797044642 |
MSV3d | rs797044642 |
GWAS Ctlg | rs797044642 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044642(ATATG;ATATG) |
Alt | rs797044642(ATATG;ATATG) |
Reference | Rs797044642(-;-) |
Significance | Pathogenic |
Disease | Aniridia 1 |
Variation | info |
Gene | PAX6 |
CLNDBN | Aniridia 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.31811508_31811509insCATAT |
CLNSRC | |
CLNACC | RCV000174463.1, |