rs28936681
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | |
(T;T) | 0 | common in clinvar |
Make rs28936681(C;C) |
Make rs28936681(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 154584993 |
Gene | ADAR |
is a | snp |
is | mentioned by |
dbSNP | rs28936681 |
dbSNP (classic) | rs28936681 |
ClinGen | rs28936681 |
ebi | rs28936681 |
HLI | rs28936681 |
Exac | rs28936681 |
Gnomad | rs28936681 |
Varsome | rs28936681 |
LitVar | rs28936681 |
Map | rs28936681 |
PheGenI | rs28936681 |
Biobank | rs28936681 |
1000 genomes | rs28936681 |
hgdp | rs28936681 |
ensembl | rs28936681 |
geneview | rs28936681 |
scholar | rs28936681 |
rs28936681 | |
pharmgkb | rs28936681 |
gwascentral | rs28936681 |
openSNP | rs28936681 |
23andMe | rs28936681 |
SNPshot | rs28936681 |
SNPdbe | rs28936681 |
MSV3d | rs28936681 |
GWAS Ctlg | rs28936681 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28936681(C;C) |
Alt | rs28936681(C;C) |
Reference | Rs28936681(T;T) |
Significance | Pathogenic |
Disease | Symmetrical dyschromatosis of extremities |
Variation | info |
Gene | ADAR |
CLNDBN | Symmetrical dyschromatosis of extremities |
Reversed | 1 |
HGVS | NC_000001.10:g.154557469A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015943.25, |