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: rs17859821
rs17859821
MMP2
2 1.000 0.040 16 55478141 intron variant G/A;C snv 0.11 0.020 1.000 2 2009 2009
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: rs1009388
rs1009388
POMC
1 1.000 0.040 2 25168232 intron variant G/C snv 0.18 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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: rs13058338
rs13058338
RAC2
4 1.000 0.040 22 37236730 intron variant T/A;G snv 0.010 1.000 1 2013 2013
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: 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: rs1544223
rs1544223
ADORA3 ; TMIGD3
1 1.000 0.040 1 111503935 intron variant C/T snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs1595064
rs1595064
ERBB4
2 0.925 0.040 2 211378020 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1595065
rs1595065
ERBB4
2 0.925 0.040 2 211377916 3 prime UTR variant G/A snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs1739843
rs1739843
HSPB7
4 0.882 0.040 1 16016759 intron variant T/C snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs1805126
rs1805126
SCN5A
2 0.925 0.040 3 38550915 synonymous variant A/G snv 0.39 0.44 0.010 1.000 1 2018 2018
dbSNP: rs198358
rs198358
CLCN6 ; NPPA-AS1
4 0.925 0.040 1 11844019 3 prime UTR variant T/C snv 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs200432861
rs200432861
PKHD1
1 1.000 0.040 6 51775844 missense variant G/A;C snv 2.4E-05; 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs200536955
rs200536955
HSPB6 ; PROSER3
3 0.925 0.040 19 35756980 missense variant G/A;T snv 7.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs2241562
rs2241562
HRH2
2 0.925 0.040 5 175684809 intron variant G/C;T snv 1.0E-03 0.010 1.000 1 2018 2018