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: rs10192428
rs10192428
SPATA3
1 1.000 0.040 2 231014025 3 prime UTR variant G/A snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs10900585
rs10900585
ATP2B4
1 1.000 0.040 1 203684896 intron variant G/T snv 0.81 0.810 1.000 2 2012 2013
dbSNP: rs11036238
rs11036238 		2 1.000 0.040 11 5204405 upstream gene variant G/C snv 0.21 0.800 1.000 1 2009 2009
dbSNP: rs11198918
rs11198918
GRK5
1 1.000 0.040 10 119423068 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11213630
rs11213630 		1 1.000 0.040 11 110868831 intergenic variant A/G snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs1126535
rs1126535
CD40LG
1 1.000 0.040 X 136648396 synonymous variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs11335470
rs11335470
LINC00944
1 1.000 0.040 12 126753075 intron variant T/- delins 0.94 0.700 1.000 1 2018 2018
dbSNP: rs113449872
rs113449872 		1 1.000 0.040 5 43909241 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs114169033
rs114169033
FRG1-DT
1 1.000 0.040 4 189796550 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1193689718
rs1193689718
PKLR
2 0.925 0.080 1 155294335 frameshift variant -/C delins 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1206846668
rs1206846668
FOLH1
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 < 0.001 1 2019 2019
dbSNP: rs12085877
rs12085877
MASP2 ; TARDBP
1 1.000 0.040 1 11027630 missense variant C/T snv 7.1E-03 2.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1211375
rs1211375
LUC7L
4 1.000 0.040 16 190281 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs12212067
rs12212067
FOXO3
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.020 1.000 2 2015 2016
dbSNP: rs12405994
rs12405994
LOC105378806
1 1.000 0.040 1 75969735 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs12788102
rs12788102
MMP26 ; OR51F1
2 1.000 0.040 11 4769345 synonymous variant A/G snv 9.5E-02 9.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs12789492
rs12789492
MMP26
2 1.000 0.040 11 4772889 intron variant C/T snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12801757
rs12801757
MMP26
1 1.000 0.040 11 4785824 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12806476
rs12806476
MMP26
1 1.000 0.040 11 4785642 intron variant T/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12808215
rs12808215
MMP26
1 1.000 0.040 11 4786742 intron variant A/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1417402
rs1417402
LOC105378806
1 1.000 0.040 1 75971511 intron variant G/A snv 7.1E-02 0.700 1.000 1 2009 2009