rs121964892
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121964892(C;T) |
Make rs121964892(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 3084655 |
Gene | AVP |
is a | snp |
is | mentioned by |
dbSNP | rs121964892 |
dbSNP (classic) | rs121964892 |
ClinGen | rs121964892 |
ebi | rs121964892 |
HLI | rs121964892 |
Exac | rs121964892 |
Gnomad | rs121964892 |
Varsome | rs121964892 |
LitVar | rs121964892 |
Map | rs121964892 |
PheGenI | rs121964892 |
Biobank | rs121964892 |
1000 genomes | rs121964892 |
hgdp | rs121964892 |
ensembl | rs121964892 |
geneview | rs121964892 |
scholar | rs121964892 |
rs121964892 | |
pharmgkb | rs121964892 |
gwascentral | rs121964892 |
openSNP | rs121964892 |
23andMe | rs121964892 |
SNPshot | rs121964892 |
SNPdbe | rs121964892 |
MSV3d | rs121964892 |
GWAS Ctlg | rs121964892 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121964892(T;T) |
Alt | rs121964892(T;T) |
Reference | Rs121964892(C;C) |
Significance | Pathogenic |
Disease | Diabetes insipidus |
Variation | info |
Gene | AVP |
CLNDBN | Diabetes insipidus, neurohypophyseal, autosomal recessive |
Reversed | 1 |
HGVS | NC_000020.10:g.3065301G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013003.16, |