rs554675432
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs554675432(-;-) |
Make rs554675432(-;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 71781526 |
Gene | PROK2 |
is a | snp |
is | mentioned by |
dbSNP | rs554675432 |
dbSNP (classic) | rs554675432 |
ClinGen | rs554675432 |
ebi | rs554675432 |
HLI | rs554675432 |
Exac | rs554675432 |
Gnomad | rs554675432 |
Varsome | rs554675432 |
LitVar | rs554675432 |
Map | rs554675432 |
PheGenI | rs554675432 |
Biobank | rs554675432 |
1000 genomes | rs554675432 |
hgdp | rs554675432 |
ensembl | rs554675432 |
geneview | rs554675432 |
scholar | rs554675432 |
rs554675432 | |
pharmgkb | rs554675432 |
gwascentral | rs554675432 |
openSNP | rs554675432 |
23andMe | rs554675432 |
SNPshot | rs554675432 |
SNPdbe | rs554675432 |
MSV3d | rs554675432 |
GWAS Ctlg | rs554675432 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs554675432(-;-) |
Alt | rs554675432(-;-) |
Reference | Rs554675432(T;T) |
Significance | Pathogenic |
Disease | Kallmann syndrome 4 |
Variation | info |
Gene | PROK2 |
CLNDBN | Kallmann syndrome 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.71830677delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003786.5, |