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: rs17015215
rs17015215
IRF6
1.000 1 209790735 missense variant C/T snv
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
dbSNP: rs2235371
rs2235371
IRF6
0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
dbSNP: rs7802
rs7802
IRF6 ; C1orf74
1.000 1 209785814 3 prime UTR variant A/G snv 7.0E-04
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
dbSNP: rs861019
rs861019
IRF6
0.925 0.120 1 209802041 splice region variant A/G snv 0.44
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007