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: rs147067171
rs147067171
PTCH1
2 0.925 0.080 9 95447309 missense variant T/C snv 5.5E-04 5.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs372027952
rs372027952
PTCH1
1 1.000 0.080 9 95447367 missense variant G/A snv 3.2E-05 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1553922901
rs1553922901
PITX2
1 1.000 0.080 4 110621268 stop gained G/A snv 0.700 0
dbSNP: rs104893858
rs104893858
PITX2
5 0.827 0.080 4 110621214 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1231780527
rs1231780527
LBX1 ; LBX1-AS1
2 0.925 0.080 10 101228551 missense variant C/T snv 6.5E-06 0.010 1.000 1 2001 2001
dbSNP: rs387906810
rs387906810
PITX2
3 0.882 0.080 4 110618679 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs397515453
rs397515453
PIK3R1
11 0.752 0.440 5 68296301 missense variant C/T snv 0.010 1.000 1 2013 2013