rs104894111
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894111(C;T) |
Make rs104894111(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 97854218 |
Gene | FOXE1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894111 |
dbSNP (classic) | rs104894111 |
ClinGen | rs104894111 |
ebi | rs104894111 |
HLI | rs104894111 |
Exac | rs104894111 |
Gnomad | rs104894111 |
Varsome | rs104894111 |
LitVar | rs104894111 |
Map | rs104894111 |
PheGenI | rs104894111 |
Biobank | rs104894111 |
1000 genomes | rs104894111 |
hgdp | rs104894111 |
ensembl | rs104894111 |
geneview | rs104894111 |
scholar | rs104894111 |
rs104894111 | |
pharmgkb | rs104894111 |
gwascentral | rs104894111 |
openSNP | rs104894111 |
23andMe | rs104894111 |
SNPshot | rs104894111 |
SNPdbe | rs104894111 |
MSV3d | rs104894111 |
GWAS Ctlg | rs104894111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894111(T;T) |
Alt | rs104894111(T;T) |
Reference | Rs104894111(C;C) |
Significance | Pathogenic |
Disease | Hypothyroidism |
Variation | info |
Gene | LOC101928337 FOXE1 |
CLNDBN | Hypothyroidism, thyroidal, with spiky hair and cleft palate |
Reversed | 0 |
HGVS | NC_000009.11:g.100616500C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007404.3, |