rs78122364
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs78122364(C;T) |
Make rs78122364(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 100824682 |
Gene | PAX2 |
is a | snp |
is | mentioned by |
dbSNP | rs78122364 |
dbSNP (classic) | rs78122364 |
ClinGen | rs78122364 |
ebi | rs78122364 |
HLI | rs78122364 |
Exac | rs78122364 |
Gnomad | rs78122364 |
Varsome | rs78122364 |
LitVar | rs78122364 |
Map | rs78122364 |
PheGenI | rs78122364 |
Biobank | rs78122364 |
1000 genomes | rs78122364 |
hgdp | rs78122364 |
ensembl | rs78122364 |
geneview | rs78122364 |
scholar | rs78122364 |
rs78122364 | |
pharmgkb | rs78122364 |
gwascentral | rs78122364 |
openSNP | rs78122364 |
23andMe | rs78122364 |
SNPshot | rs78122364 |
SNPdbe | rs78122364 |
MSV3d | rs78122364 |
GWAS Ctlg | rs78122364 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78122364(A;A) rs78122364(T;T) |
Alt | rs78122364(A;A) rs78122364(T;T) |
Reference | Rs78122364(C;C) |
Significance | Pathogenic |
Disease | Renal coloboma syndrome |
Variation | info |
Gene | PAX2 |
CLNDBN | Renal coloboma syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.102584439C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014814.25, |