rs878853234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs878853234(-;-) |
Make rs878853234(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 69964875 |
Gene | MITF |
is a | snp |
is | mentioned by |
dbSNP | rs878853234 |
dbSNP (classic) | rs878853234 |
ClinGen | rs878853234 |
ebi | rs878853234 |
HLI | rs878853234 |
Exac | rs878853234 |
Gnomad | rs878853234 |
Varsome | rs878853234 |
LitVar | rs878853234 |
Map | rs878853234 |
PheGenI | rs878853234 |
Biobank | rs878853234 |
1000 genomes | rs878853234 |
hgdp | rs878853234 |
ensembl | rs878853234 |
geneview | rs878853234 |
scholar | rs878853234 |
rs878853234 | |
pharmgkb | rs878853234 |
gwascentral | rs878853234 |
openSNP | rs878853234 |
23andMe | rs878853234 |
SNPshot | rs878853234 |
SNPdbe | rs878853234 |
MSV3d | rs878853234 |
GWAS Ctlg | rs878853234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853234(-;-) |
Alt | rs878853234(-;-) |
Reference | Rs878853234(G;G) |
Significance | Pathogenic |
Disease | Waardenburg syndrome type 2A |
Variation | info |
Gene | MITF |
CLNDBN | Waardenburg syndrome type 2A |
Reversed | 0 |
HGVS | NC_000003.11:g.70014026delG |
CLNSRC | |
CLNACC | RCV000225077.1, |