rs797045185
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797045185(G;G) |
Make rs797045185(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 33391344 |
Gene | PEPD |
is a | snp |
is | mentioned by |
dbSNP | rs797045185 |
dbSNP (classic) | rs797045185 |
ClinGen | rs797045185 |
ebi | rs797045185 |
HLI | rs797045185 |
Exac | rs797045185 |
Gnomad | rs797045185 |
Varsome | rs797045185 |
LitVar | rs797045185 |
Map | rs797045185 |
PheGenI | rs797045185 |
Biobank | rs797045185 |
1000 genomes | rs797045185 |
hgdp | rs797045185 |
ensembl | rs797045185 |
geneview | rs797045185 |
scholar | rs797045185 |
rs797045185 | |
pharmgkb | rs797045185 |
gwascentral | rs797045185 |
openSNP | rs797045185 |
23andMe | rs797045185 |
SNPshot | rs797045185 |
SNPdbe | rs797045185 |
MSV3d | rs797045185 |
GWAS Ctlg | rs797045185 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045185(G;G) |
Alt | rs797045185(G;G) |
Reference | Rs797045185(T;T) |
Significance | Pathogenic |
Disease | Prolidase deficiency |
Variation | info |
Gene | PEPD |
CLNDBN | Prolidase deficiency |
Reversed | 1 |
HGVS | NC_000019.9:g.33882250A>C |
CLNSRC | |
CLNACC | RCV000194259.1, |