rs483352912
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs483352912(C;T) |
Make rs483352912(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 58679193 |
Gene | ADAM10 |
is a | snp |
is | mentioned by |
dbSNP | rs483352912 |
dbSNP (classic) | rs483352912 |
ClinGen | rs483352912 |
ebi | rs483352912 |
HLI | rs483352912 |
Exac | rs483352912 |
Gnomad | rs483352912 |
Varsome | rs483352912 |
LitVar | rs483352912 |
Map | rs483352912 |
PheGenI | rs483352912 |
Biobank | rs483352912 |
1000 genomes | rs483352912 |
hgdp | rs483352912 |
ensembl | rs483352912 |
geneview | rs483352912 |
scholar | rs483352912 |
rs483352912 | |
pharmgkb | rs483352912 |
gwascentral | rs483352912 |
openSNP | rs483352912 |
23andMe | rs483352912 |
SNPshot | rs483352912 |
SNPdbe | rs483352912 |
MSV3d | rs483352912 |
GWAS Ctlg | rs483352912 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352912(T;T) |
Alt | rs483352912(T;T) |
Reference | Rs483352912(C;C) |
Significance | Pathogenic |
Disease | Reticulate acropigmentation of Kitamura |
Variation | info |
Gene | ADAM10 |
CLNDBN | Reticulate acropigmentation of Kitamura |
Reversed | 1 |
HGVS | NC_000015.9:g.58971392G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074427.5, |