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: rs10927887
rs10927887
CLCNKA
3 0.925 0.040 1 16024780 missense variant A/C;G snv 0.55 0.020 1.000 2 2011 2013
dbSNP: rs34376731
rs34376731
PPP1R1A
2 0.925 0.040 12 54581014 missense variant C/T snv 4.6E-03 1.9E-02 0.020 1.000 2 2008 2009
dbSNP: rs9909004
rs9909004
PRKCA
2 0.925 0.040 17 66310015 intron variant C/T snv 0.59 0.020 1.000 2 2017 2019
dbSNP: rs1028728
rs1028728
POSTN
3 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs10519210
rs10519210 		1 1.000 0.040 15 63445726 intergenic variant T/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs10932374
rs10932374
ERBB4
2 0.925 0.040 2 211379678 3 prime UTR variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs11006544
rs11006544
LOC107984235
3 1.000 0.040 10 59510886 intergenic variant T/C snv 7.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs11110004
rs11110004
ANKS1B
3 1.000 0.040 12 99694540 intron variant T/C snv 5.1E-03 0.700 1.000 1 2019 2019
dbSNP: rs11172782
rs11172782 		1 1.000 0.040 12 58865846 intergenic variant A/G snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs112434206
rs112434206 		3 1.000 0.040 5 33083283 intron variant A/C;G snv 7.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs113235453
rs113235453
NUBPL
3 1.000 0.040 14 31849939 intron variant A/G snv 3.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs114821210
rs114821210 		3 1.000 0.040 5 166089843 intergenic variant C/A snv 6.0E-03 0.700 1.000 1 2019 2019
dbSNP: rs12362161
rs12362161 		3 1.000 0.040 11 98834502 intergenic variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1249958
rs1249958
PPP1R1A
3 0.925 0.040 12 54582053 missense variant C/T snv 2.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs12564445
rs12564445
TNNT2
5 0.851 0.040 1 201376359 intron variant G/A snv 0.27 0.010 < 0.001 1 2013 2013
dbSNP: rs1258130495
rs1258130495
EDNRA
3 0.882 0.040 4 147485727 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs12638540
rs12638540
CMTM7
1 1.000 0.040 3 32447042 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs13003941
rs13003941
ERBB4
2 0.925 0.040 2 211378978 3 prime UTR variant G/C;T snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1303946678
rs1303946678
CYP2D6 ; NDUFA6-DT
3 0.925 0.040 22 42126851 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1337916669
rs1337916669
HFE ; LOC108783645
2 0.925 0.040 6 26092879 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs139130723
rs139130723 		3 1.000 0.040 6 14411553 intergenic variant A/G snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs142803096
rs142803096 		3 1.000 0.040 6 14420151 intergenic variant G/C snv 4.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs1429117513
rs1429117513
LAG3
2 0.925 0.040 12 6775316 synonymous variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs144303414
rs144303414 		3 1.000 0.040 18 48509413 intergenic variant A/C snv 1.5E-02 0.700 1.000 1 2019 2019