rs147232392
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147232392(G;T) |
Make rs147232392(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 137566740 |
Gene | ZIC3 |
is a | snp |
is | mentioned by |
dbSNP | rs147232392 |
dbSNP (classic) | rs147232392 |
ClinGen | rs147232392 |
ebi | rs147232392 |
HLI | rs147232392 |
Exac | rs147232392 |
Gnomad | rs147232392 |
Varsome | rs147232392 |
LitVar | rs147232392 |
Map | rs147232392 |
PheGenI | rs147232392 |
Biobank | rs147232392 |
1000 genomes | rs147232392 |
hgdp | rs147232392 |
ensembl | rs147232392 |
geneview | rs147232392 |
scholar | rs147232392 |
rs147232392 | |
pharmgkb | rs147232392 |
gwascentral | rs147232392 |
openSNP | rs147232392 |
23andMe | rs147232392 |
SNPshot | rs147232392 |
SNPdbe | rs147232392 |
MSV3d | rs147232392 |
GWAS Ctlg | rs147232392 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147232392(T;T) |
Alt | rs147232392(T;T) |
Reference | Rs147232392(G;G) |
Significance | Other |
Disease | Heterotaxy VACTERL association with hydrocephaly not specified Congenital heart defects 1 |
Variation | info |
Gene | ZIC3 |
CLNDBN | Heterotaxy, visceral, X-linked VACTERL association with hydrocephaly, X-linked not specified Congenital heart defects 1, nonsyndromic, 1 |
Reversed | 0 |
HGVS | NC_000023.10:g.136648899G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000198780.5, RCV000201846.2, RCV000248648.1, RCV000360572.1, |