rs267607268
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607268(A;A) |
Make rs267607268(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 27322443 |
Gene | MPV17 |
is a | snp |
is | mentioned by |
dbSNP | rs267607268 |
dbSNP (classic) | rs267607268 |
ClinGen | rs267607268 |
ebi | rs267607268 |
HLI | rs267607268 |
Exac | rs267607268 |
Gnomad | rs267607268 |
Varsome | rs267607268 |
LitVar | rs267607268 |
Map | rs267607268 |
PheGenI | rs267607268 |
Biobank | rs267607268 |
1000 genomes | rs267607268 |
hgdp | rs267607268 |
ensembl | rs267607268 |
geneview | rs267607268 |
scholar | rs267607268 |
rs267607268 | |
pharmgkb | rs267607268 |
gwascentral | rs267607268 |
openSNP | rs267607268 |
23andMe | rs267607268 |
SNPshot | rs267607268 |
SNPdbe | rs267607268 |
MSV3d | rs267607268 |
GWAS Ctlg | rs267607268 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607268(A;A) |
Alt | rs267607268(A;A) |
Reference | Rs267607268(G;G) |
Significance | Pathogenic |
Disease | Navajo neurohepatopathy |
Variation | info |
Gene | MPV17 |
CLNDBN | Navajo neurohepatopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.27545310C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031915.1, |