rs878853175
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGA;AGA) | 0 | common in clinvar |
Make rs878853175(-;-) |
Make rs878853175(-;AAG) |
Make rs878853175(AAG;AAG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 4815182 |
Gene | ITPR1 |
is a | snp |
is | mentioned by |
dbSNP | rs878853175 |
dbSNP (classic) | rs878853175 |
ClinGen | rs878853175 |
ebi | rs878853175 |
HLI | rs878853175 |
Exac | rs878853175 |
Gnomad | rs878853175 |
Varsome | rs878853175 |
LitVar | rs878853175 |
Map | rs878853175 |
PheGenI | rs878853175 |
Biobank | rs878853175 |
1000 genomes | rs878853175 |
hgdp | rs878853175 |
ensembl | rs878853175 |
geneview | rs878853175 |
scholar | rs878853175 |
rs878853175 | |
pharmgkb | rs878853175 |
gwascentral | rs878853175 |
openSNP | rs878853175 |
23andMe | rs878853175 |
SNPshot | rs878853175 |
SNPdbe | rs878853175 |
MSV3d | rs878853175 |
GWAS Ctlg | rs878853175 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853175(-;-) |
Alt | rs878853175(-;-) |
Reference | Rs878853175(AGA;AGA) |
Significance | Pathogenic |
Disease | Gillespie syndrome |
Variation | info |
Gene | ITPR1 |
CLNDBN | Gillespie syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.4856866_4856868delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000224994.2, |