rs122453121
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs122453121(C;T) |
Make rs122453121(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 133699902 |
Gene | GPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs122453121 |
dbSNP (classic) | rs122453121 |
ClinGen | rs122453121 |
ebi | rs122453121 |
HLI | rs122453121 |
Exac | rs122453121 |
Gnomad | rs122453121 |
Varsome | rs122453121 |
LitVar | rs122453121 |
Map | rs122453121 |
PheGenI | rs122453121 |
Biobank | rs122453121 |
1000 genomes | rs122453121 |
hgdp | rs122453121 |
ensembl | rs122453121 |
geneview | rs122453121 |
scholar | rs122453121 |
rs122453121 | |
pharmgkb | rs122453121 |
gwascentral | rs122453121 |
openSNP | rs122453121 |
23andMe | rs122453121 |
SNPshot | rs122453121 |
SNPdbe | rs122453121 |
MSV3d | rs122453121 |
GWAS Ctlg | rs122453121 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122453121(T;T) |
Alt | rs122453121(T;T) |
Reference | Rs122453121(C;C) |
Significance | Pathogenic |
Disease | Simpson-Golabi-Behmel syndrome |
Variation | info |
Gene | GPC3 |
CLNDBN | Simpson-Golabi-Behmel syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.132833930G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012460.15, |