rs1057518761
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGTACTACGAGACC;GGTACTACGAGACC) | 0 | common in clinvar |
Make rs1057518761(-;-) |
Make rs1057518761(-;GGTACTACGAGACC) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 100750693 |
Gene | PAX2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518761 |
dbSNP (classic) | rs1057518761 |
ClinGen | rs1057518761 |
ebi | rs1057518761 |
HLI | rs1057518761 |
Exac | rs1057518761 |
Gnomad | rs1057518761 |
Varsome | rs1057518761 |
LitVar | rs1057518761 |
Map | rs1057518761 |
PheGenI | rs1057518761 |
Biobank | rs1057518761 |
1000 genomes | rs1057518761 |
hgdp | rs1057518761 |
ensembl | rs1057518761 |
geneview | rs1057518761 |
scholar | rs1057518761 |
rs1057518761 | |
pharmgkb | rs1057518761 |
gwascentral | rs1057518761 |
openSNP | rs1057518761 |
23andMe | rs1057518761 |
SNPshot | rs1057518761 |
SNPdbe | rs1057518761 |
MSV3d | rs1057518761 |
GWAS Ctlg | rs1057518761 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518761(-;-) |
Alt | rs1057518761(-;-) |
Reference | Rs1057518761(GGTACTACGAGACC;GGTACTACGAGACC) |
Significance | Probable-Pathogenic |
Disease | Renal cyst |
Variation | info |
Gene | PAX2 |
CLNDBN | Renal cyst |
Reversed | 0 |
HGVS | NC_000010.10:g.102510450_102510463delGGTACTACGAGACC |
CLNSRC | |
CLNACC | RCV000415347.1, |