rs121964887
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121964887(G;T) |
Make rs121964887(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 3083138 |
Gene | AVP |
is a | snp |
is | mentioned by |
dbSNP | rs121964887 |
dbSNP (classic) | rs121964887 |
ClinGen | rs121964887 |
ebi | rs121964887 |
HLI | rs121964887 |
Exac | rs121964887 |
Gnomad | rs121964887 |
Varsome | rs121964887 |
LitVar | rs121964887 |
Map | rs121964887 |
PheGenI | rs121964887 |
Biobank | rs121964887 |
1000 genomes | rs121964887 |
hgdp | rs121964887 |
ensembl | rs121964887 |
geneview | rs121964887 |
scholar | rs121964887 |
rs121964887 | |
pharmgkb | rs121964887 |
gwascentral | rs121964887 |
openSNP | rs121964887 |
23andMe | rs121964887 |
SNPshot | rs121964887 |
SNPdbe | rs121964887 |
MSV3d | rs121964887 |
GWAS Ctlg | rs121964887 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121964887(T;T) |
Alt | rs121964887(T;T) |
Reference | Rs121964887(G;G) |
Significance | Pathogenic |
Disease | Neurohypophyseal diabetes insipidus |
Variation | info |
Gene | AVP |
CLNDBN | Neurohypophyseal diabetes insipidus |
Reversed | 1 |
HGVS | NC_000020.10:g.3063784C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012997.22, |