rs139004722
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs139004722(C;G) |
Make rs139004722(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 16317900 |
Gene | PIGL |
is a | snp |
is | mentioned by |
dbSNP | rs139004722 |
dbSNP (classic) | rs139004722 |
ClinGen | rs139004722 |
ebi | rs139004722 |
HLI | rs139004722 |
Exac | rs139004722 |
Gnomad | rs139004722 |
Varsome | rs139004722 |
LitVar | rs139004722 |
Map | rs139004722 |
PheGenI | rs139004722 |
Biobank | rs139004722 |
1000 genomes | rs139004722 |
hgdp | rs139004722 |
ensembl | rs139004722 |
geneview | rs139004722 |
scholar | rs139004722 |
rs139004722 | |
pharmgkb | rs139004722 |
gwascentral | rs139004722 |
openSNP | rs139004722 |
23andMe | rs139004722 |
SNPshot | rs139004722 |
SNPdbe | rs139004722 |
MSV3d | rs139004722 |
GWAS Ctlg | rs139004722 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139004722(G;G) rs139004722(T;T) |
Alt | rs139004722(G;G) rs139004722(T;T) |
Reference | Rs139004722(C;C) |
Significance | Pathogenic |
Disease | Zunich neuroectodermal syndrome |
Variation | info |
Gene | PIGL |
CLNDBN | Zunich neuroectodermal syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.16221214C>G; NC_000017.10:g.16221214C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000147272.1, RCV000023503.4, |