rs267606991
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606991(A;A) |
Make rs267606991(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 161076355 |
Gene | NECTIN4 |
is a | snp |
is | mentioned by |
dbSNP | rs267606991 |
dbSNP (classic) | rs267606991 |
ClinGen | rs267606991 |
ebi | rs267606991 |
HLI | rs267606991 |
Exac | rs267606991 |
Gnomad | rs267606991 |
Varsome | rs267606991 |
LitVar | rs267606991 |
Map | rs267606991 |
PheGenI | rs267606991 |
Biobank | rs267606991 |
1000 genomes | rs267606991 |
hgdp | rs267606991 |
ensembl | rs267606991 |
geneview | rs267606991 |
scholar | rs267606991 |
rs267606991 | |
pharmgkb | rs267606991 |
gwascentral | rs267606991 |
openSNP | rs267606991 |
23andMe | rs267606991 |
SNPshot | rs267606991 |
SNPdbe | rs267606991 |
MSV3d | rs267606991 |
GWAS Ctlg | rs267606991 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606991(A;A) |
Alt | rs267606991(A;A) |
Reference | Rs267606991(G;G) |
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.161046145C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001667.4, |