rs730880260
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs730880260(-;-) |
Make rs730880260(-;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 161074705 |
Gene | NECTIN4 |
is a | snp |
is | mentioned by |
dbSNP | rs730880260 |
dbSNP (classic) | rs730880260 |
ClinGen | rs730880260 |
ebi | rs730880260 |
HLI | rs730880260 |
Exac | rs730880260 |
Gnomad | rs730880260 |
Varsome | rs730880260 |
LitVar | rs730880260 |
Map | rs730880260 |
PheGenI | rs730880260 |
Biobank | rs730880260 |
1000 genomes | rs730880260 |
hgdp | rs730880260 |
ensembl | rs730880260 |
geneview | rs730880260 |
scholar | rs730880260 |
rs730880260 | |
pharmgkb | rs730880260 |
gwascentral | rs730880260 |
openSNP | rs730880260 |
23andMe | rs730880260 |
SNPshot | rs730880260 |
SNPdbe | rs730880260 |
MSV3d | rs730880260 |
GWAS Ctlg | rs730880260 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880260(-;-) |
Alt | rs730880260(-;-) |
Reference | Rs730880260(T;T) |
Significance | Pathogenic |
Disease | Ectodermal dysplasia-syndactyly syndrome 1 |
Variation | info |
Gene | NECTIN4 PVRL4 |
CLNDBN | Ectodermal dysplasia-syndactyly syndrome 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.161044495delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001669.4, |