rs104893944
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104893944(C;T) |
Make rs104893944(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 131576666 |
Gene | ARG1, MED23 |
is a | snp |
is | mentioned by |
dbSNP | rs104893944 |
dbSNP (classic) | rs104893944 |
ClinGen | rs104893944 |
ebi | rs104893944 |
HLI | rs104893944 |
Exac | rs104893944 |
Gnomad | rs104893944 |
Varsome | rs104893944 |
LitVar | rs104893944 |
Map | rs104893944 |
PheGenI | rs104893944 |
Biobank | rs104893944 |
1000 genomes | rs104893944 |
hgdp | rs104893944 |
ensembl | rs104893944 |
geneview | rs104893944 |
scholar | rs104893944 |
rs104893944 | |
pharmgkb | rs104893944 |
gwascentral | rs104893944 |
openSNP | rs104893944 |
23andMe | rs104893944 |
SNPshot | rs104893944 |
SNPdbe | rs104893944 |
MSV3d | rs104893944 |
GWAS Ctlg | rs104893944 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893944(T;T) |
Alt | rs104893944(T;T) |
Reference | Rs104893944(C;C) |
Significance | Pathogenic |
Disease | Arginase deficiency not provided |
Variation | info |
Gene | MED23 ARG1 |
CLNDBN | Arginase deficiency not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.131897806C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002498.3, RCV000421601.1, |