rs122467170
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs122467170(A;A) |
Make rs122467170(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 49251480 |
Gene | FOXP3 |
is a | snp |
is | mentioned by |
dbSNP | rs122467170 |
dbSNP (classic) | rs122467170 |
ClinGen | rs122467170 |
ebi | rs122467170 |
HLI | rs122467170 |
Exac | rs122467170 |
Gnomad | rs122467170 |
Varsome | rs122467170 |
LitVar | rs122467170 |
Map | rs122467170 |
PheGenI | rs122467170 |
Biobank | rs122467170 |
1000 genomes | rs122467170 |
hgdp | rs122467170 |
ensembl | rs122467170 |
geneview | rs122467170 |
scholar | rs122467170 |
rs122467170 | |
pharmgkb | rs122467170 |
gwascentral | rs122467170 |
openSNP | rs122467170 |
23andMe | rs122467170 |
SNPshot | rs122467170 |
SNPdbe | rs122467170 |
MSV3d | rs122467170 |
GWAS Ctlg | rs122467170 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122467170(A;A) |
Alt | rs122467170(A;A) |
Reference | Rs122467170(G;G) |
Significance | Pathogenic |
Disease | Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
Variation | info |
Gene | FOXP3 |
CLNDBN | Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.49107941C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012163.13, |