Source: CLINVAR

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: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 1.000 1 2015 2015
dbSNP: rs793888541
rs793888541
TFAP2A ; TFAP2A-AS2
0.807 0.120 6 10404631 missense variant A/T snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 1.000 1 2015 2015
dbSNP: rs1057518960
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 0
dbSNP: rs1558027212
rs1558027212
TMCO1
0.827 0.320 1 165728096 frameshift variant GC/- del
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 0
dbSNP: rs587783446
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 0