rs121907922
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121907922(A;T) |
Make rs121907922(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 31789935 |
Gene | PAX6 |
is a | snp |
is | mentioned by |
dbSNP | rs121907922 |
dbSNP (classic) | rs121907922 |
ClinGen | rs121907922 |
ebi | rs121907922 |
HLI | rs121907922 |
Exac | rs121907922 |
Gnomad | rs121907922 |
Varsome | rs121907922 |
LitVar | rs121907922 |
Map | rs121907922 |
PheGenI | rs121907922 |
Biobank | rs121907922 |
1000 genomes | rs121907922 |
hgdp | rs121907922 |
ensembl | rs121907922 |
geneview | rs121907922 |
scholar | rs121907922 |
rs121907922 | |
pharmgkb | rs121907922 |
gwascentral | rs121907922 |
openSNP | rs121907922 |
23andMe | rs121907922 |
SNPshot | rs121907922 |
SNPdbe | rs121907922 |
MSV3d | rs121907922 |
GWAS Ctlg | rs121907922 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121907922(T;T) |
Alt | rs121907922(T;T) |
Reference | Rs121907922(A;A) |
Significance | Pathogenic |
Disease | Aniridia 1 not provided |
Variation | info |
Gene | PAX6 |
CLNDBN | Aniridia 1 not provided |
Reversed | 1 |
HGVS | NC_000011.9:g.31811483T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003642.3, RCV000327291.1, |