rs587777598
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777598(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 6 |
Position | 79921662 |
Gene | ELOVL4 |
is a | snp |
is | mentioned by |
dbSNP | rs587777598 |
dbSNP (classic) | rs587777598 |
ClinGen | rs587777598 |
ebi | rs587777598 |
HLI | rs587777598 |
Exac | rs587777598 |
Gnomad | rs587777598 |
Varsome | rs587777598 |
LitVar | rs587777598 |
Map | rs587777598 |
PheGenI | rs587777598 |
Biobank | rs587777598 |
1000 genomes | rs587777598 |
hgdp | rs587777598 |
ensembl | rs587777598 |
geneview | rs587777598 |
scholar | rs587777598 |
rs587777598 | |
pharmgkb | rs587777598 |
gwascentral | rs587777598 |
openSNP | rs587777598 |
23andMe | rs587777598 |
SNPshot | rs587777598 |
SNPdbe | rs587777598 |
MSV3d | rs587777598 |
GWAS Ctlg | rs587777598 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777598(C;C) rs587777598(T;T) |
Alt | Rs587777598(C;C) rs587777598(T;T) |
Reference | Rs587777598(G;G) |
Significance | Pathogenic |
Disease | Erythrokeratodermia with ataxia |
Variation | info |
Gene | ELOVL4 |
CLNDBN | Erythrokeratodermia with ataxia |
Reversed | 1 |
HGVS | NC_000006.11:g.80631379C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000132563.4, |