rs28933689
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | |
(T;T) | 0 | common in clinvar |
Make rs28933689(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 106036712 |
Gene | SERPINA7 |
is a | snp |
is | mentioned by |
dbSNP | rs28933689 |
dbSNP (classic) | rs28933689 |
ClinGen | rs28933689 |
ebi | rs28933689 |
HLI | rs28933689 |
Exac | rs28933689 |
Gnomad | rs28933689 |
Varsome | rs28933689 |
LitVar | rs28933689 |
Map | rs28933689 |
PheGenI | rs28933689 |
Biobank | rs28933689 |
1000 genomes | rs28933689 |
hgdp | rs28933689 |
ensembl | rs28933689 |
geneview | rs28933689 |
scholar | rs28933689 |
rs28933689 | |
pharmgkb | rs28933689 |
gwascentral | rs28933689 |
openSNP | rs28933689 |
23andMe | rs28933689 |
SNPshot | rs28933689 |
SNPdbe | rs28933689 |
MSV3d | rs28933689 |
GWAS Ctlg | rs28933689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs28933689(A;A) |
Alt | Rs28933689(A;A) |
Reference | Rs28933689(T;T) |
Significance | Pathogenic |
Disease | Thyroxine-binding globulin deficiency |
Variation | info |
Gene | SERPINA7 |
CLNDBN | Thyroxine-binding globulin deficiency, partial |
Reversed | 1 |
HGVS | NC_000023.10:g.105280703A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010454.4, |