rs121964888
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121964888(C;C) |
Make rs121964888(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 3083139 |
Gene | AVP |
is a | snp |
is | mentioned by |
dbSNP | rs121964888 |
dbSNP (classic) | rs121964888 |
ClinGen | rs121964888 |
ebi | rs121964888 |
HLI | rs121964888 |
Exac | rs121964888 |
Gnomad | rs121964888 |
Varsome | rs121964888 |
LitVar | rs121964888 |
Map | rs121964888 |
PheGenI | rs121964888 |
Biobank | rs121964888 |
1000 genomes | rs121964888 |
hgdp | rs121964888 |
ensembl | rs121964888 |
geneview | rs121964888 |
scholar | rs121964888 |
rs121964888 | |
pharmgkb | rs121964888 |
gwascentral | rs121964888 |
openSNP | rs121964888 |
23andMe | rs121964888 |
SNPshot | rs121964888 |
SNPdbe | rs121964888 |
MSV3d | rs121964888 |
GWAS Ctlg | rs121964888 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121964888(C;C) |
Alt | rs121964888(C;C) |
Reference | Rs121964888(G;G) |
Significance | Pathogenic |
Disease | Neurohypophyseal diabetes insipidus |
Variation | info |
Gene | AVP |
CLNDBN | Neurohypophyseal diabetes insipidus |
Reversed | 1 |
HGVS | NC_000020.10:g.3063785C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012998.16, |