rs759315662
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs759315662(-;A) |
Make rs759315662(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 15534602 |
Gene | NBAS |
is a | snp |
is | mentioned by |
dbSNP | rs759315662 |
dbSNP (classic) | rs759315662 |
ClinGen | rs759315662 |
ebi | rs759315662 |
HLI | rs759315662 |
Exac | rs759315662 |
Gnomad | rs759315662 |
Varsome | rs759315662 |
LitVar | rs759315662 |
Map | rs759315662 |
PheGenI | rs759315662 |
Biobank | rs759315662 |
1000 genomes | rs759315662 |
hgdp | rs759315662 |
ensembl | rs759315662 |
geneview | rs759315662 |
scholar | rs759315662 |
rs759315662 | |
pharmgkb | rs759315662 |
gwascentral | rs759315662 |
openSNP | rs759315662 |
23andMe | rs759315662 |
SNPshot | rs759315662 |
SNPdbe | rs759315662 |
MSV3d | rs759315662 |
GWAS Ctlg | rs759315662 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759315662(A;A) |
Alt | rs759315662(A;A) |
Reference | Rs759315662(-;-) |
Significance | Pathogenic |
Disease | Infantile liver failure syndrome 2 not provided |
Variation | info |
Gene | NBAS |
CLNDBN | Infantile liver failure syndrome 2 not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.15674727dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000186578.2, RCV000487069.1, |