rs587776619
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587776619(-;-) |
Make rs587776619(-;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 5741748 |
Gene | EVC |
is a | snp |
is | mentioned by |
dbSNP | rs587776619 |
dbSNP (classic) | rs587776619 |
ClinGen | rs587776619 |
ebi | rs587776619 |
HLI | rs587776619 |
Exac | rs587776619 |
Gnomad | rs587776619 |
Varsome | rs587776619 |
LitVar | rs587776619 |
Map | rs587776619 |
PheGenI | rs587776619 |
Biobank | rs587776619 |
1000 genomes | rs587776619 |
hgdp | rs587776619 |
ensembl | rs587776619 |
geneview | rs587776619 |
scholar | rs587776619 |
rs587776619 | |
pharmgkb | rs587776619 |
gwascentral | rs587776619 |
openSNP | rs587776619 |
23andMe | rs587776619 |
SNPshot | rs587776619 |
SNPdbe | rs587776619 |
MSV3d | rs587776619 |
GWAS Ctlg | rs587776619 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776619(-;-) |
Alt | rs587776619(-;-) |
Reference | Rs587776619(T;T) |
Significance | Pathogenic |
Disease | Chondroectodermal dysplasia |
Variation | info |
Gene | EVC |
CLNDBN | Chondroectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000004.11:g.5743475delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005669.5, |