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: rs1276834647
rs1276834647
STRA6
2 1.000 0.080 15 74183970 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs146423225
rs146423225
ZFPM2 ; ZFPM2-AS1
2 0.925 0.120 8 105802747 stop gained C/G;T snv 1.1E-02 0.010 1.000 1 2012 2012
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: rs4842407
rs4842407 		4 0.882 0.200 12 78807293 intron variant A/G snv 0.35 0.010 1.000 1 2017 2017