rs147952488
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs147952488(A;G) |
Make rs147952488(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 27312992 |
Gene | MPV17 |
is a | snp |
is | mentioned by |
dbSNP | rs147952488 |
dbSNP (classic) | rs147952488 |
ClinGen | rs147952488 |
ebi | rs147952488 |
HLI | rs147952488 |
Exac | rs147952488 |
Gnomad | rs147952488 |
Varsome | rs147952488 |
LitVar | rs147952488 |
Map | rs147952488 |
PheGenI | rs147952488 |
Biobank | rs147952488 |
1000 genomes | rs147952488 |
hgdp | rs147952488 |
ensembl | rs147952488 |
geneview | rs147952488 |
scholar | rs147952488 |
rs147952488 | |
pharmgkb | rs147952488 |
gwascentral | rs147952488 |
openSNP | rs147952488 |
23andMe | rs147952488 |
SNPshot | rs147952488 |
SNPdbe | rs147952488 |
MSV3d | rs147952488 |
GWAS Ctlg | rs147952488 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147952488(G;G) |
Alt | rs147952488(G;G) |
Reference | Rs147952488(A;A) |
Significance | Pathogenic |
Disease | Navajo neurohepatopathy not provided |
Variation | info |
Gene | MPV17 |
CLNDBN | Navajo neurohepatopathy not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.27535859A>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031903.1, RCV000195573.1, |