rs77777862
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs77777862(-;-) |
Make rs77777862(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 100781310 |
Gene | PAX2 |
is a | snp |
is | mentioned by |
dbSNP | rs77777862 |
dbSNP (classic) | rs77777862 |
ClinGen | rs77777862 |
ebi | rs77777862 |
HLI | rs77777862 |
Exac | rs77777862 |
Gnomad | rs77777862 |
Varsome | rs77777862 |
LitVar | rs77777862 |
Map | rs77777862 |
PheGenI | rs77777862 |
Biobank | rs77777862 |
1000 genomes | rs77777862 |
hgdp | rs77777862 |
ensembl | rs77777862 |
geneview | rs77777862 |
scholar | rs77777862 |
rs77777862 | |
pharmgkb | rs77777862 |
gwascentral | rs77777862 |
openSNP | rs77777862 |
23andMe | rs77777862 |
SNPshot | rs77777862 |
SNPdbe | rs77777862 |
MSV3d | rs77777862 |
GWAS Ctlg | rs77777862 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77777862(-;-) |
Alt | rs77777862(-;-) |
Reference | Rs77777862(C;C) |
Significance | Pathogenic |
Disease | Renal coloboma syndrome |
Variation | info |
Gene | PAX2 |
CLNDBN | Renal coloboma syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.102541067delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014805.25, |