|
rs78645479
|
FOXD3;FOXD3-AS1
|
Vitiligo
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to a possible association of rs78645479 in FoxD3 with vitiligo, our data on the association of this FoxD3 variant with thyroid autoantibodies suggest a potential involvement of FoxD3 in thyroid immunoregulation.
|
26267147 |
2015 |
|
rs78645479
|
FOXD3;FOXD3-AS1
|
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition to a possible association of rs78645479 in FoxD3 with vitiligo, our data on the association of this FoxD3 variant with thyroid autoantibodies suggest a potential involvement of FoxD3 in thyroid immunoregulation.
|
26267147 |
2015 |
|
rs78645479
|
FOXD3;FOXD3-AS1
|
Candidiasis
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a promotor variant (rs78645479) in an index case of vitiligo + HT + candidiasis and evaluated its clinical and functional relevance.
|
26267147 |
2015 |
|
rs78645479
|
FOXD3;FOXD3-AS1
|
Hashimoto Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a promotor variant (rs78645479) in an index case of vitiligo + HT + candidiasis and evaluated its clinical and functional relevance.
|
26267147 |
2015 |
|
rs151021417
|
FOXD3;FOXD3-AS1
|
Irido-corneo-trabecular dysgenesis (disorder)
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Asn173His variant affects Helix 2 of the DNA-binding domain and was observed in two unrelated patients with Peters anomaly or aniridia; in both cases, one parent carried the same allele.
|
22815627 |
2012 |
|
rs151021417
|
FOXD3;FOXD3-AS1
|
Aniridia
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.Asn173His variant affects Helix 2 of the DNA-binding domain and was observed in two unrelated patients with Peters anomaly or aniridia; in both cases, one parent carried the same allele.
|
22815627 |
2012 |
|
rs184767331
|
FOXD3;FOXD3-AS1
|
Irido-corneo-trabecular dysgenesis (disorder)
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of these changes, c.47C>T (p.Thr16Met), c.359C>T (p.Pro120Leu), c.517A>C (p.Asn173His), and c.818_829dup (p.Arg273_Gly276dup), affected conserved regions and were observed primarily in probands with aniridia or Peters anomaly; out of these four variants, one, p.Arg273_Gly276dup, was not detected in control populations and two, p.Pro120Leu and p.Asn173His, were statistically enriched in cases with aniridia or Peters anomaly.
|
22815627 |
2012 |
|
rs184767331
|
FOXD3;FOXD3-AS1
|
Aniridia
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of these changes, c.47C>T (p.Thr16Met), c.359C>T (p.Pro120Leu), c.517A>C (p.Asn173His), and c.818_829dup (p.Arg273_Gly276dup), affected conserved regions and were observed primarily in probands with aniridia or Peters anomaly; out of these four variants, one, p.Arg273_Gly276dup, was not detected in control populations and two, p.Pro120Leu and p.Asn173His, were statistically enriched in cases with aniridia or Peters anomaly.
|
22815627 |
2012 |
|
rs202186939
|
FOXD3;FOXD3-AS1
|
Irido-corneo-trabecular dysgenesis (disorder)
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of these changes, c.47C>T (p.Thr16Met), c.359C>T (p.Pro120Leu), c.517A>C (p.Asn173His), and c.818_829dup (p.Arg273_Gly276dup), affected conserved regions and were observed primarily in probands with aniridia or Peters anomaly; out of these four variants, one, p.Arg273_Gly276dup, was not detected in control populations and two, p.Pro120Leu and p.Asn173His, were statistically enriched in cases with aniridia or Peters anomaly.
|
22815627 |
2012 |
|
rs202186939
|
FOXD3;FOXD3-AS1
|
Aniridia
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of these changes, c.47C>T (p.Thr16Met), c.359C>T (p.Pro120Leu), c.517A>C (p.Asn173His), and c.818_829dup (p.Arg273_Gly276dup), affected conserved regions and were observed primarily in probands with aniridia or Peters anomaly; out of these four variants, one, p.Arg273_Gly276dup, was not detected in control populations and two, p.Pro120Leu and p.Asn173His, were statistically enriched in cases with aniridia or Peters anomaly.
|
22815627 |
2012 |