Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555639411
rs1555639411
BPTF
TG 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs121434341
rs121434341
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554603293
rs1554603293
CHD7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs367557471
rs367557471
CHD7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1353175955
rs1353175955
SPINT2
0.010 GeneticVariation BEFREE We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. 28716867

2017
dbSNP: rs104894110
rs104894110
FOXE1 ; PTCSC2
0.010 GeneticVariation BEFREE 11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain. 9697705

1998
dbSNP: rs1474322770
rs1474322770
NKX2-1 ; SFTA3 ; NKX2-1-AS1
0.010 GeneticVariation BEFREE 11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain. 9697705

1998