rs122467172
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TT;TT) | 0 | common in clinvar |
Make rs122467172(GC;GC) |
Make rs122467172(GC;TT) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 49251692 |
Gene | FOXP3 |
is a | snp |
is | mentioned by |
dbSNP | rs122467172 |
dbSNP (classic) | rs122467172 |
ClinGen | rs122467172 |
ebi | rs122467172 |
HLI | rs122467172 |
Exac | rs122467172 |
Gnomad | rs122467172 |
Varsome | rs122467172 |
LitVar | rs122467172 |
Map | rs122467172 |
PheGenI | rs122467172 |
Biobank | rs122467172 |
1000 genomes | rs122467172 |
hgdp | rs122467172 |
ensembl | rs122467172 |
geneview | rs122467172 |
scholar | rs122467172 |
rs122467172 | |
pharmgkb | rs122467172 |
gwascentral | rs122467172 |
openSNP | rs122467172 |
23andMe | rs122467172 |
SNPshot | rs122467172 |
SNPdbe | rs122467172 |
MSV3d | rs122467172 |
GWAS Ctlg | rs122467172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122467172(GC;GC) |
Alt | rs122467172(GC;GC) |
Reference | Rs122467172(TT;TT) |
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.49108153_49108154delAAinsGC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012168.4, |