rs122462165
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs122462165(C;T) |
Make rs122462165(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 137567659 |
Gene | ZIC3 |
is a | snp |
is | mentioned by |
dbSNP | rs122462165 |
dbSNP (classic) | rs122462165 |
ClinGen | rs122462165 |
ebi | rs122462165 |
HLI | rs122462165 |
Exac | rs122462165 |
Gnomad | rs122462165 |
Varsome | rs122462165 |
LitVar | rs122462165 |
Map | rs122462165 |
PheGenI | rs122462165 |
Biobank | rs122462165 |
1000 genomes | rs122462165 |
hgdp | rs122462165 |
ensembl | rs122462165 |
geneview | rs122462165 |
scholar | rs122462165 |
rs122462165 | |
pharmgkb | rs122462165 |
gwascentral | rs122462165 |
openSNP | rs122462165 |
23andMe | rs122462165 |
SNPshot | rs122462165 |
SNPdbe | rs122462165 |
MSV3d | rs122462165 |
GWAS Ctlg | rs122462165 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122462165(T;T) |
Alt | rs122462165(T;T) |
Reference | Rs122462165(C;C) |
Significance | Pathogenic |
Disease | Heterotaxy |
Variation | info |
Gene | ZIC3 |
CLNDBN | Heterotaxy, visceral, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.136649818C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012186.11, |