rs2234036
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2234036(A;A) |
Make rs2234036(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 106035377 |
Gene | SERPINA7 |
is a | snp |
is | mentioned by |
dbSNP | rs2234036 |
dbSNP (classic) | rs2234036 |
ClinGen | rs2234036 |
ebi | rs2234036 |
HLI | rs2234036 |
Exac | rs2234036 |
Gnomad | rs2234036 |
Varsome | rs2234036 |
LitVar | rs2234036 |
Map | rs2234036 |
PheGenI | rs2234036 |
Biobank | rs2234036 |
1000 genomes | rs2234036 |
hgdp | rs2234036 |
ensembl | rs2234036 |
geneview | rs2234036 |
scholar | rs2234036 |
rs2234036 | |
pharmgkb | rs2234036 |
gwascentral | rs2234036 |
openSNP | rs2234036 |
23andMe | rs2234036 |
SNPshot | rs2234036 |
SNPdbe | rs2234036 |
MSV3d | rs2234036 |
GWAS Ctlg | rs2234036 |
GMAF | 0.004837 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2234036(A;A) |
Alt | rs2234036(A;A) |
Reference | Rs2234036(G;G) |
Significance | Pathogenic |
Disease | Thyroxine-binding globulin Thyroxine-binding globulin deficiency |
Variation | info |
Gene | SERPINA7 |
CLNDBN | Thyroxine-binding globulin, variant A Thyroxine-binding globulin deficiency |
Reversed | 1 |
HGVS | NC_000023.10:g.105279368C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010439.3, RCV000490381.1, |