rs121909721
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909721(A;A) |
Make rs121909721(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 27313031 |
Gene | MPV17 |
is a | snp |
is | mentioned by |
dbSNP | rs121909721 |
dbSNP (classic) | rs121909721 |
ClinGen | rs121909721 |
ebi | rs121909721 |
HLI | rs121909721 |
Exac | rs121909721 |
Gnomad | rs121909721 |
Varsome | rs121909721 |
LitVar | rs121909721 |
Map | rs121909721 |
PheGenI | rs121909721 |
Biobank | rs121909721 |
1000 genomes | rs121909721 |
hgdp | rs121909721 |
ensembl | rs121909721 |
geneview | rs121909721 |
scholar | rs121909721 |
rs121909721 | |
pharmgkb | rs121909721 |
gwascentral | rs121909721 |
openSNP | rs121909721 |
23andMe | rs121909721 |
SNPshot | rs121909721 |
SNPdbe | rs121909721 |
MSV3d | rs121909721 |
GWAS Ctlg | rs121909721 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909721(A;A) |
Alt | rs121909721(A;A) |
Reference | Rs121909721(G;G) |
Significance | Pathogenic |
Disease | Navajo neurohepatopathy |
Variation | info |
Gene | MPV17 |
CLNDBN | Navajo neurohepatopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.27535898C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017543.26, |