rs35953626
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs35953626(C;T) |
Make rs35953626(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 5753797 |
Gene | EVC |
is a | snp |
is | mentioned by |
dbSNP | rs35953626 |
dbSNP (classic) | rs35953626 |
ClinGen | rs35953626 |
ebi | rs35953626 |
HLI | rs35953626 |
Exac | rs35953626 |
Gnomad | rs35953626 |
Varsome | rs35953626 |
LitVar | rs35953626 |
Map | rs35953626 |
PheGenI | rs35953626 |
Biobank | rs35953626 |
1000 genomes | rs35953626 |
hgdp | rs35953626 |
ensembl | rs35953626 |
geneview | rs35953626 |
scholar | rs35953626 |
rs35953626 | |
pharmgkb | rs35953626 |
gwascentral | rs35953626 |
openSNP | rs35953626 |
23andMe | rs35953626 |
SNPshot | rs35953626 |
SNPdbe | rs35953626 |
MSV3d | rs35953626 |
GWAS Ctlg | rs35953626 |
GMAF | 0.05464 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs35953626(T;T) |
Alt | rs35953626(T;T) |
Reference | Rs35953626(C;C) |
Significance | Non-pathogenic |
Disease | Chondroectodermal dysplasia not specified Ellis-van Creveld Syndrome |
Variation | info |
Gene | EVC |
CLNDBN | Chondroectodermal dysplasia not specified Ellis-van Creveld Syndrome |
Reversed | 1 |
HGVS | NC_000004.11:g.5755524G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005670.5, RCV000248324.2, RCV000340475.1, |