rs267606992
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606992(C;T) |
Make rs267606992(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 161077629 |
Gene | NECTIN4 |
is a | snp |
is | mentioned by |
dbSNP | rs267606992 |
dbSNP (classic) | rs267606992 |
ClinGen | rs267606992 |
ebi | rs267606992 |
HLI | rs267606992 |
Exac | rs267606992 |
Gnomad | rs267606992 |
Varsome | rs267606992 |
LitVar | rs267606992 |
Map | rs267606992 |
PheGenI | rs267606992 |
Biobank | rs267606992 |
1000 genomes | rs267606992 |
hgdp | rs267606992 |
ensembl | rs267606992 |
geneview | rs267606992 |
scholar | rs267606992 |
rs267606992 | |
pharmgkb | rs267606992 |
gwascentral | rs267606992 |
openSNP | rs267606992 |
23andMe | rs267606992 |
SNPshot | rs267606992 |
SNPdbe | rs267606992 |
MSV3d | rs267606992 |
GWAS Ctlg | rs267606992 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606992(T;T) |
Alt | rs267606992(T;T) |
Reference | Rs267606992(C;C) |
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.161047419G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001668.4, |