rs876657717
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs876657717(A;A) |
Make rs876657717(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 222232202 |
Gene | LOC105373901, PAX3 |
is a | snp |
is | mentioned by |
dbSNP | rs876657717 |
dbSNP (classic) | rs876657717 |
ClinGen | rs876657717 |
ebi | rs876657717 |
HLI | rs876657717 |
Exac | rs876657717 |
Gnomad | rs876657717 |
Varsome | rs876657717 |
LitVar | rs876657717 |
Map | rs876657717 |
PheGenI | rs876657717 |
Biobank | rs876657717 |
1000 genomes | rs876657717 |
hgdp | rs876657717 |
ensembl | rs876657717 |
geneview | rs876657717 |
scholar | rs876657717 |
rs876657717 | |
pharmgkb | rs876657717 |
gwascentral | rs876657717 |
openSNP | rs876657717 |
23andMe | rs876657717 |
SNPshot | rs876657717 |
SNPdbe | rs876657717 |
MSV3d | rs876657717 |
GWAS Ctlg | rs876657717 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657717(A;A) |
Alt | rs876657717(A;A) |
Reference | Rs876657717(G;G) |
Significance | Pathogenic |
Disease | Waardenburg syndrome |
Variation | info |
Gene | PAX3 |
CLNDBN | Waardenburg syndrome |
Reversed | 1 |
HGVS | NC_000002.11:g.223096921C>T |
CLNSRC | |
CLNACC | RCV000216335.1, |