rs751356206
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs751356206(A;A) |
Make rs751356206(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 4 |
Position | 5622775 |
Gene | EVC2 |
is a | snp |
is | mentioned by |
dbSNP | rs751356206 |
dbSNP (classic) | rs751356206 |
ClinGen | rs751356206 |
ebi | rs751356206 |
HLI | rs751356206 |
Exac | rs751356206 |
Gnomad | rs751356206 |
Varsome | rs751356206 |
LitVar | rs751356206 |
Map | rs751356206 |
PheGenI | rs751356206 |
Biobank | rs751356206 |
1000 genomes | rs751356206 |
hgdp | rs751356206 |
ensembl | rs751356206 |
geneview | rs751356206 |
scholar | rs751356206 |
rs751356206 | |
pharmgkb | rs751356206 |
gwascentral | rs751356206 |
openSNP | rs751356206 |
23andMe | rs751356206 |
SNPshot | rs751356206 |
SNPdbe | rs751356206 |
MSV3d | rs751356206 |
GWAS Ctlg | rs751356206 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs751356206(A;A) |
Alt | rs751356206(A;A) |
Reference | Rs751356206(G;G) |
Significance | Pathogenic |
Disease | Chondroectodermal dysplasia |
Variation | info |
Gene | EVC2 |
CLNDBN | Chondroectodermal dysplasia |
Reversed | 0 |
HGVS | NC_000004.11:g.5624502G>A |
CLNSRC | |
CLNACC | RCV000174810.1, |