rs138672528
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs138672528(C;T) |
Make rs138672528(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 20 |
Position | 5314027 |
Gene | LOC728283, PROKR2 |
is a | snp |
is | mentioned by |
dbSNP | rs138672528 |
dbSNP (classic) | rs138672528 |
ClinGen | rs138672528 |
ebi | rs138672528 |
HLI | rs138672528 |
Exac | rs138672528 |
Gnomad | rs138672528 |
Varsome | rs138672528 |
LitVar | rs138672528 |
Map | rs138672528 |
PheGenI | rs138672528 |
Biobank | rs138672528 |
1000 genomes | rs138672528 |
hgdp | rs138672528 |
ensembl | rs138672528 |
geneview | rs138672528 |
scholar | rs138672528 |
rs138672528 | |
pharmgkb | rs138672528 |
gwascentral | rs138672528 |
openSNP | rs138672528 |
23andMe | rs138672528 |
SNPshot | rs138672528 |
SNPdbe | rs138672528 |
MSV3d | rs138672528 |
GWAS Ctlg | rs138672528 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138672528(T;T) |
Alt | rs138672528(T;T) |
Reference | Rs138672528(C;C) |
Significance | Pathogenic |
Disease | Kallmann syndrome 3 |
Variation | info |
Gene | PROKR2 LOC728283 |
CLNDBN | Kallmann syndrome 3 |
Reversed | 0 |
HGVS | NC_000020.10:g.5294673C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144713.3, |