rs797044663
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044663(-;A) |
Make rs797044663(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 101757580 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs797044663 |
dbSNP (classic) | rs797044663 |
ClinGen | rs797044663 |
ebi | rs797044663 |
HLI | rs797044663 |
Exac | rs797044663 |
Gnomad | rs797044663 |
Varsome | rs797044663 |
LitVar | rs797044663 |
Map | rs797044663 |
PheGenI | rs797044663 |
Biobank | rs797044663 |
1000 genomes | rs797044663 |
hgdp | rs797044663 |
ensembl | rs797044663 |
geneview | rs797044663 |
scholar | rs797044663 |
rs797044663 | |
pharmgkb | rs797044663 |
gwascentral | rs797044663 |
openSNP | rs797044663 |
23andMe | rs797044663 |
SNPshot | rs797044663 |
SNPdbe | rs797044663 |
MSV3d | rs797044663 |
GWAS Ctlg | rs797044663 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044663(A;A) |
Alt | rs797044663(A;A) |
Reference | Rs797044663(-;-) |
Significance | Pathogenic |
Disease | I cell disease |
Variation | info |
Gene | GNPTAB |
CLNDBN | I cell disease |
Reversed | 1 |
HGVS | NC_000012.11:g.102151359dupT |
CLNSRC | |
CLNACC | RCV000175232.1, |