rs121964958
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121964958(A;A) |
Make rs121964958(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 100301512 |
Gene | PCCA |
is a | snp |
is | mentioned by |
dbSNP | rs121964958 |
dbSNP (classic) | rs121964958 |
ClinGen | rs121964958 |
ebi | rs121964958 |
HLI | rs121964958 |
Exac | rs121964958 |
Gnomad | rs121964958 |
Varsome | rs121964958 |
LitVar | rs121964958 |
Map | rs121964958 |
PheGenI | rs121964958 |
Biobank | rs121964958 |
1000 genomes | rs121964958 |
hgdp | rs121964958 |
ensembl | rs121964958 |
geneview | rs121964958 |
scholar | rs121964958 |
rs121964958 | |
pharmgkb | rs121964958 |
gwascentral | rs121964958 |
openSNP | rs121964958 |
23andMe | rs121964958 |
SNPshot | rs121964958 |
SNPdbe | rs121964958 |
MSV3d | rs121964958 |
GWAS Ctlg | rs121964958 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121964958(A;A) |
Alt | rs121964958(A;A) |
Reference | Rs121964958(T;T) |
Significance | Pathogenic |
Disease | Propionic acidemia |
Variation | info |
Gene | PCCA |
CLNDBN | Propionic acidemia |
Reversed | 0 |
HGVS | NC_000013.10:g.100953766T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012804.24, |