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: rs11024102
rs11024102
7 0.851 0.040 11 16987058 intron variant T/C snv 0.20 0.790 0.900 10 2013 2019
dbSNP: rs3753841
rs3753841
7 0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49 0.780 1.000 9 2013 2019
dbSNP: rs1015213
rs1015213
6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.750 1.000 6 2013 2019
dbSNP: rs1258267
rs1258267
2 0.925 0.040 10 49687724 intron variant G/A snv 0.95 0.720 1.000 3 2016 2019
dbSNP: rs736893
rs736893
2 0.925 0.040 9 4217028 intron variant G/A;C snv 0.720 1.000 3 2016 2019
dbSNP: rs7494379
rs7494379
2 0.925 0.040 14 52944673 intron variant C/G;T snv 0.720 1.000 3 2016 2019
dbSNP: rs3739821
rs3739821
2 0.925 0.040 9 127940198 non coding transcript exon variant A/G snv 0.61 0.710 1.000 2 2016 2019
dbSNP: rs3816415
rs3816415
2 0.925 0.040 7 37948709 intron variant G/A snv 0.12 0.710 1.000 2 2016 2019
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.050 0.800 5 2009 2020
dbSNP: rs12138977
rs12138977
2 0.925 0.040 1 102927901 intron variant C/T snv 0.52 0.030 1.000 3 2014 2019
dbSNP: rs1217691063
rs1217691063
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: rs1676486
rs1676486
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.020 1.000 2 2014 2019
dbSNP: rs17427817
rs17427817
HGF
2 0.925 0.040 7 81735119 intron variant C/A;G;T snv 0.020 1.000 2 2013 2018
dbSNP: rs183532
rs183532
2 0.925 0.040 1 171640341 intron variant T/A;C snv 0.020 1.000 2 2015 2019
dbSNP: rs2250889
rs2250889
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.020 1.000 2 2009 2020
dbSNP: rs235875
rs235875
2 0.925 0.040 1 171644616 intron variant C/T snv 0.16 0.020 1.000 2 2015 2019
dbSNP: rs2664538
rs2664538
6 0.827 0.200 20 46011586 missense variant A/G snv 0.020 0.500 2 2006 2008
dbSNP: rs3918249
rs3918249
6 0.807 0.200 20 46009497 intron variant T/C snv 0.41 0.020 1.000 2 2011 2016
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs1043618
rs1043618
10 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
dbSNP: rs1132776
rs1132776
2 0.925 0.040 3 183978614 synonymous variant A/G snv 0.58 0.61 0.010 1.000 1 2017 2017
dbSNP: rs1157699
rs1157699
2 0.925 0.040 2 187394177 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs11669977
rs11669977
3 0.882 0.040 19 49060867 non coding transcript exon variant A/G snv 0.17 0.010 1.000 1 2010 2010