Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2013162
rs2013162
IRF6
0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 1.000 1 2010 2010
dbSNP: rs2013162
rs2013162
IRF6
0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.010 1.000 1 2016 2016
dbSNP: rs2013162
rs2013162
IRF6
0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2019 2019
dbSNP: rs2013162
rs2013162
IRF6
0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 1.000 1 2016 2016
dbSNP: rs2013162
rs2013162
IRF6
0.827 0.280 1 209795339 synonymous variant C/A;T snv 0.41; 1.6E-05
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.010 1.000 1 2016 2016