rs796065038
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCT;CCT) | 0 | common in clinvar |
Make rs796065038(-;-) |
Make rs796065038(-;CCT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 15536460 |
Gene | NBAS |
is a | snp |
is | mentioned by |
dbSNP | rs796065038 |
dbSNP (classic) | rs796065038 |
ClinGen | rs796065038 |
ebi | rs796065038 |
HLI | rs796065038 |
Exac | rs796065038 |
Gnomad | rs796065038 |
Varsome | rs796065038 |
LitVar | rs796065038 |
Map | rs796065038 |
PheGenI | rs796065038 |
Biobank | rs796065038 |
1000 genomes | rs796065038 |
hgdp | rs796065038 |
ensembl | rs796065038 |
geneview | rs796065038 |
scholar | rs796065038 |
rs796065038 | |
pharmgkb | rs796065038 |
gwascentral | rs796065038 |
openSNP | rs796065038 |
23andMe | rs796065038 |
SNPshot | rs796065038 |
SNPdbe | rs796065038 |
MSV3d | rs796065038 |
GWAS Ctlg | rs796065038 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065038(-;-) |
Alt | rs796065038(-;-) |
Reference | Rs796065038(CCT;CCT) |
Significance | Pathogenic |
Disease | Infantile liver failure syndrome 2 |
Variation | info |
Gene | NBAS |
CLNDBN | Infantile liver failure syndrome 2 |
Reversed | 1 |
HGVS | NC_000002.11:g.15676584_15676586delAGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000186580.2, |