Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137941190
rs137941190
DCPS ; GSEC
1 1.000 11 126345546 missense variant C/G;T snv 1.2E-03 0.800 0
dbSNP: rs1057519083
rs1057519083
DCPS
1 1.000 11 126304283 splice donor variant T/C snv 0.700 0
dbSNP: rs770528538
rs770528538
DCPS
1 1.000 11 126338400 splice donor variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs104893858
rs104893858
PITX2
5 0.827 0.080 4 110621214 missense variant T/C;G snv 8.0E-06 0.020 1.000 2 2002 2008
dbSNP: rs1048060629
rs1048060629
LEF1
1 1.000 4 108163576 missense variant G/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs104893860
rs104893860
PITX2
2 0.925 0.080 4 110618542 stop gained C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs104893952
rs104893952
FOXC1
2 0.925 0.080 6 1610512 stop gained C/G;T snv 1.7E-05 0.010 1.000 1 2000 2000
dbSNP: rs121909248
rs121909248
PITX2
2 0.925 0.120 4 110621166 missense variant G/A snv 0.010 1.000 1 2002 2002