rs193922120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCT;GCT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs193922120(-;-) |
Make rs193922120(-;GCT) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 153906325 |
Gene | AVPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs193922120 |
dbSNP (classic) | rs193922120 |
ClinGen | rs193922120 |
ebi | rs193922120 |
HLI | rs193922120 |
Exac | rs193922120 |
Gnomad | rs193922120 |
Varsome | rs193922120 |
LitVar | rs193922120 |
Map | rs193922120 |
PheGenI | rs193922120 |
Biobank | rs193922120 |
1000 genomes | rs193922120 |
hgdp | rs193922120 |
ensembl | rs193922120 |
geneview | rs193922120 |
scholar | rs193922120 |
rs193922120 | |
pharmgkb | rs193922120 |
gwascentral | rs193922120 |
openSNP | rs193922120 |
23andMe | rs193922120 |
SNPshot | rs193922120 |
SNPdbe | rs193922120 |
MSV3d | rs193922120 |
GWAS Ctlg | rs193922120 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922120(-;-) |
Alt | rs193922120(-;-) |
Reference | Rs193922120(GCT;GCT) |
Significance | Probable-Pathogenic |
Disease | Nephrogenic diabetes insipidus |
Variation | info |
Gene | AVPR2 |
CLNDBN | Nephrogenic diabetes insipidus |
Reversed | 0 |
HGVS | NC_000023.10:g.153171779_153171781delGCT |
CLNSRC | ClinVar |
CLNACC | RCV000029397.1, |