rs397515338
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs397515338(-;-) |
Make rs397515338(-;AA) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 98490051 |
Gene | HPSE2 |
is a | snp |
is | mentioned by |
dbSNP | rs397515338 |
dbSNP (classic) | rs397515338 |
ClinGen | rs397515338 |
ebi | rs397515338 |
HLI | rs397515338 |
Exac | rs397515338 |
Gnomad | rs397515338 |
Varsome | rs397515338 |
LitVar | rs397515338 |
Map | rs397515338 |
PheGenI | rs397515338 |
Biobank | rs397515338 |
1000 genomes | rs397515338 |
hgdp | rs397515338 |
ensembl | rs397515338 |
geneview | rs397515338 |
scholar | rs397515338 |
rs397515338 | |
pharmgkb | rs397515338 |
gwascentral | rs397515338 |
openSNP | rs397515338 |
23andMe | rs397515338 |
SNPshot | rs397515338 |
SNPdbe | rs397515338 |
MSV3d | rs397515338 |
GWAS Ctlg | rs397515338 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515338(-;-) |
Alt | rs397515338(-;-) |
Reference | Rs397515338(AA;AA) |
Significance | Pathogenic |
Disease | Ochoa syndrome |
Variation | info |
Gene | HPSE2 |
CLNDBN | Ochoa syndrome |
Reversed | 1 |
HGVS | NC_000010.10:g.100249808_100249809delTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000104.5, |