rs755276554
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs755276554(G;T) |
Make rs755276554(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 33799852 |
Gene | ITSN1 |
is a | snp |
is | mentioned by |
dbSNP | rs755276554 |
dbSNP (classic) | rs755276554 |
ClinGen | rs755276554 |
ebi | rs755276554 |
HLI | rs755276554 |
Exac | rs755276554 |
Gnomad | rs755276554 |
Varsome | rs755276554 |
LitVar | rs755276554 |
Map | rs755276554 |
PheGenI | rs755276554 |
Biobank | rs755276554 |
1000 genomes | rs755276554 |
hgdp | rs755276554 |
ensembl | rs755276554 |
geneview | rs755276554 |
scholar | rs755276554 |
rs755276554 | |
pharmgkb | rs755276554 |
gwascentral | rs755276554 |
openSNP | rs755276554 |
23andMe | rs755276554 |
SNPshot | rs755276554 |
SNPdbe | rs755276554 |
MSV3d | rs755276554 |
GWAS Ctlg | rs755276554 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755276554(T;T) |
Alt | rs755276554(T;T) |
Reference | Rs755276554(G;G) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | ITSN1 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000021.8:g.35172156G>T |
CLNSRC | |
CLNACC | RCV000210640.1, |