rs398124400
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs398124400(-;-) |
Make rs398124400(-;AA) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 101780190 |
Gene | GNPTAB |
is a | snp |
is | mentioned by |
dbSNP | rs398124400 |
dbSNP (classic) | rs398124400 |
ClinGen | rs398124400 |
ebi | rs398124400 |
HLI | rs398124400 |
Exac | rs398124400 |
Gnomad | rs398124400 |
Varsome | rs398124400 |
LitVar | rs398124400 |
Map | rs398124400 |
PheGenI | rs398124400 |
Biobank | rs398124400 |
1000 genomes | rs398124400 |
hgdp | rs398124400 |
ensembl | rs398124400 |
geneview | rs398124400 |
scholar | rs398124400 |
rs398124400 | |
pharmgkb | rs398124400 |
gwascentral | rs398124400 |
openSNP | rs398124400 |
23andMe | rs398124400 |
SNPshot | rs398124400 |
SNPdbe | rs398124400 |
MSV3d | rs398124400 |
GWAS Ctlg | rs398124400 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124400(-;-) |
Alt | rs398124400(-;-) |
Reference | Rs398124400(AA;AA) |
Significance | Pathogenic |
Disease | not provided I cell disease |
Variation | info |
Gene | GNPTAB |
CLNDBN | not provided I cell disease |
Reversed | 1 |
HGVS | NC_000012.11:g.102173968_102173969delTT |
CLNSRC | ClinVar |
CLNACC | RCV000082196.3, RCV000179972.1, |