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: rs180765750
rs180765750
GATA4
1 1.000 0.080 8 11750175 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs199650082
rs199650082
ERN1
1 1.000 0.080 17 64044166 missense variant C/G;T snv 4.4E-06; 4.9E-04 0.010 1.000 1 2017 2017
dbSNP: rs1555261576
rs1555261576
FREM2
1 1.000 0.080 13 38692338 missense variant C/T snv 0.700 0
dbSNP: rs756636036
rs756636036
ROBO4 ; LOC107984406
1 1.000 0.080 11 124896308 missense variant C/A;G;T snv 4.0E-06; 2.8E-05 0.700 0
dbSNP: rs864309713
rs864309713
FBN1
1 1.000 0.080 15 48463993 frameshift variant -/T ins 0.700 0
dbSNP: rs921444831
rs921444831
FRAS1
1 1.000 0.080 4 78450199 missense variant A/C;T snv 0.700 0