rs763445509
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs763445509(-;C) |
Make rs763445509(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 108900313 |
Gene | IKBKAP |
is a | snp |
is | mentioned by |
dbSNP | rs763445509 |
dbSNP (classic) | rs763445509 |
ClinGen | rs763445509 |
ebi | rs763445509 |
HLI | rs763445509 |
Exac | rs763445509 |
Gnomad | rs763445509 |
Varsome | rs763445509 |
LitVar | rs763445509 |
Map | rs763445509 |
PheGenI | rs763445509 |
Biobank | rs763445509 |
1000 genomes | rs763445509 |
hgdp | rs763445509 |
ensembl | rs763445509 |
geneview | rs763445509 |
scholar | rs763445509 |
rs763445509 | |
pharmgkb | rs763445509 |
gwascentral | rs763445509 |
openSNP | rs763445509 |
23andMe | rs763445509 |
SNPshot | rs763445509 |
SNPdbe | rs763445509 |
MSV3d | rs763445509 |
GWAS Ctlg | rs763445509 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763445509(C;C) |
Alt | rs763445509(C;C) |
Reference | Rs763445509(-;-) |
Significance | Probable-Pathogenic |
Disease | Familial dysautonomia |
Variation | info |
Gene | IKBKAP |
CLNDBN | Familial dysautonomia |
Reversed | 0 |
HGVS | NC_000009.11:g.111662594dupC |
CLNSRC | |
CLNACC | RCV000412398.1, |