rs75462234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs75462234(-;-) |
Make rs75462234(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 100749778 |
Gene | PAX2 |
is a | snp |
is | mentioned by |
dbSNP | rs75462234 |
dbSNP (classic) | rs75462234 |
ClinGen | rs75462234 |
ebi | rs75462234 |
HLI | rs75462234 |
Exac | rs75462234 |
Gnomad | rs75462234 |
Varsome | rs75462234 |
LitVar | rs75462234 |
Map | rs75462234 |
PheGenI | rs75462234 |
Biobank | rs75462234 |
1000 genomes | rs75462234 |
hgdp | rs75462234 |
ensembl | rs75462234 |
geneview | rs75462234 |
scholar | rs75462234 |
rs75462234 | |
pharmgkb | rs75462234 |
gwascentral | rs75462234 |
openSNP | rs75462234 |
23andMe | rs75462234 |
SNPshot | rs75462234 |
SNPdbe | rs75462234 |
MSV3d | rs75462234 |
GWAS Ctlg | rs75462234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75462234(-;-) |
Alt | rs75462234(-;-) |
Reference | Rs75462234(G;G) |
Significance | Pathogenic |
Disease | Renal coloboma syndrome |
Variation | info |
Gene | PAX2 |
CLNDBN | Renal coloboma syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.102509535delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014812.25, |