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: rs41298838
rs41298838
TBX1
1 1.000 0.200 22 19765921 missense variant G/A;T snv 5.2E-03 0.700 1.000 2 2001 2016
dbSNP: rs1555895466
rs1555895466
TBX1
1 1.000 0.200 22 19761162 stop gained A/T snv 0.700 0
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
6 0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03 0.020 1.000 2 2018 2018
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs786201031
rs786201031
SPECC1L ; SPECC1L-ADORA2A
2 0.925 0.280 22 24412690 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2015 2015