rs587776601
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587776601(-;-) |
Make rs587776601(-;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 142741899 |
Gene | SLURP1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776601 |
dbSNP (classic) | rs587776601 |
ClinGen | rs587776601 |
ebi | rs587776601 |
HLI | rs587776601 |
Exac | rs587776601 |
Gnomad | rs587776601 |
Varsome | rs587776601 |
LitVar | rs587776601 |
Map | rs587776601 |
PheGenI | rs587776601 |
Biobank | rs587776601 |
1000 genomes | rs587776601 |
hgdp | rs587776601 |
ensembl | rs587776601 |
geneview | rs587776601 |
scholar | rs587776601 |
rs587776601 | |
pharmgkb | rs587776601 |
gwascentral | rs587776601 |
openSNP | rs587776601 |
23andMe | rs587776601 |
SNPshot | rs587776601 |
SNPdbe | rs587776601 |
MSV3d | rs587776601 |
GWAS Ctlg | rs587776601 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776601(-;-) |
Alt | rs587776601(-;-) |
Reference | Rs587776601(A;A) |
Significance | Pathogenic |
Disease | Acroerythrokeratoderma |
Variation | info |
Gene | SLURP1 |
CLNDBN | Acroerythrokeratoderma |
Reversed | 0 |
HGVS | NC_000008.10:g.143823317delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004862.4, |