rs121434272
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434272(C;T) |
Make rs121434272(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 71781472 |
Gene | PROK2 |
is a | snp |
is | mentioned by |
dbSNP | rs121434272 |
dbSNP (classic) | rs121434272 |
ClinGen | rs121434272 |
ebi | rs121434272 |
HLI | rs121434272 |
Exac | rs121434272 |
Gnomad | rs121434272 |
Varsome | rs121434272 |
LitVar | rs121434272 |
Map | rs121434272 |
PheGenI | rs121434272 |
Biobank | rs121434272 |
1000 genomes | rs121434272 |
hgdp | rs121434272 |
ensembl | rs121434272 |
geneview | rs121434272 |
scholar | rs121434272 |
rs121434272 | |
pharmgkb | rs121434272 |
gwascentral | rs121434272 |
openSNP | rs121434272 |
23andMe | rs121434272 |
SNPshot | rs121434272 |
SNPdbe | rs121434272 |
MSV3d | rs121434272 |
GWAS Ctlg | rs121434272 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434272(G;G) rs121434272(T;T) |
Alt | rs121434272(G;G) rs121434272(T;T) |
Reference | Rs121434272(C;C) |
Significance | Pathogenic |
Disease | Kallmann syndrome 4 |
Variation | info |
Gene | PROK2 |
CLNDBN | Kallmann syndrome 4 |
Reversed | 1 |
HGVS | NC_000003.11:g.71830623G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003788.4, |