rs397507438
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAGGCGGGGTCTGCAGGAACACCAGA;GAGGCGGGGTCTGCAGGAACACCAGA) | 0 | common in clinvar |
(GGGGTCTGCAGGAACACCAGAGAGGC;GGGGTCTGCAGGAACACCAGAGAGGC) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs397507438(-;-) |
Make rs397507438(-;AGAGGCGGGGTCTGCAGGAACACCAG) |
Make rs397507438(AGAGGCGGGGTCTGCAGGAACACCAG;AGAGGCGGGGTCTGCAGGAACACCAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 27313039 |
Gene | MPV17 |
is a | snp |
is | mentioned by |
dbSNP | rs397507438 |
dbSNP (classic) | rs397507438 |
ClinGen | rs397507438 |
ebi | rs397507438 |
HLI | rs397507438 |
Exac | rs397507438 |
Gnomad | rs397507438 |
Varsome | rs397507438 |
LitVar | rs397507438 |
Map | rs397507438 |
PheGenI | rs397507438 |
Biobank | rs397507438 |
1000 genomes | rs397507438 |
hgdp | rs397507438 |
ensembl | rs397507438 |
geneview | rs397507438 |
scholar | rs397507438 |
rs397507438 | |
pharmgkb | rs397507438 |
gwascentral | rs397507438 |
openSNP | rs397507438 |
23andMe | rs397507438 |
SNPshot | rs397507438 |
SNPdbe | rs397507438 |
MSV3d | rs397507438 |
GWAS Ctlg | rs397507438 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507438(-;-) |
Alt | rs397507438(-;-) |
Reference | Rs397507438(GGGGTCTGCAGGAACACCAGAGAGGC;GGGGTCTGCAGGAACACCAGAGAGGC) |
Significance | Pathogenic |
Disease | Navajo neurohepatopathy |
Variation | info |
Gene | MPV17 |
CLNDBN | Navajo neurohepatopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.27535906_27535931del26 |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031902.1, |