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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 31 1997 2015
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.900 1.000 16 1997 2019
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.100 1.000 10 1999 2019
dbSNP: rs2227589
rs2227589
3 0.925 0.120 1 173917078 intron variant C/T snv 9.6E-02 0.030 1.000 3 2013 2019
dbSNP: rs2420371
rs2420371
F5
4 1 169522317 intron variant G/A snv 0.95 0.700 1.000 3 2009 2012
dbSNP: rs4524
rs4524
F5
3 1 169542517 missense variant T/C snv 0.28 0.24 0.710 1.000 3 2015 2019
dbSNP: rs6427196
rs6427196
F5
3 1.000 0.080 1 169511985 3 prime UTR variant C/G;T snv 0.800 1.000 3 2011 2013
dbSNP: rs1018827
rs1018827
F5
2 1 169544768 intron variant A/G snv 0.92 0.800 1.000 2 2011 2012
dbSNP: rs10737547
rs10737547
2 1 169506814 intergenic variant A/G snv 0.93 0.700 1.000 2 2011 2012
dbSNP: rs1208134
rs1208134
2 1 169459706 intron variant C/T snv 0.93 0.700 1.000 2 2011 2012
dbSNP: rs1208135
rs1208135
2 1 169454860 intron variant A/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs1208327
rs1208327
2 1 169327626 intron variant C/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs16861990
rs16861990
2 1 169165889 intron variant A/C snv 5.5E-02 0.800 1.000 2 2011 2012
dbSNP: rs1894692
rs1894692
2 1 169498416 non coding transcript exon variant G/A snv 0.98 0.700 1.000 2 2011 2012
dbSNP: rs2420370
rs2420370
F5
1 1 169521154 intron variant G/C snv 0.95 0.700 1.000 2 2011 2012
dbSNP: rs2420372
rs2420372
F5
2 1 169528818 intron variant A/G snv 0.95 0.700 1.000 2 2011 2012
dbSNP: rs2842700
rs2842700
1 1 207108804 intron variant C/A;G snv 0.12 0.700 1.000 2 2019 2019
dbSNP: rs3789683
rs3789683
F3
3 0.925 0.200 1 94530506 missense variant C/T snv 6.5E-03 1.0E-02 0.020 1.000 2 2015 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2003 2013
dbSNP: rs6009
rs6009
F5
3 1.000 0.080 1 169529596 intron variant T/A;C snv 0.94 0.700 1.000 2 2011 2012
dbSNP: rs6136
rs6136
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.020 1.000 2 2007 2008
dbSNP: rs6427194
rs6427194
F5
2 1 169511883 downstream gene variant T/A snv 0.91 0.700 1.000 2 2011 2012
dbSNP: rs6427195
rs6427195
F5
2 1 169511938 downstream gene variant A/C;T snv 0.700 1.000 2 2011 2012
dbSNP: rs6427197
rs6427197
F5
2 1 169531352 intron variant C/A snv 0.92 0.700 1.000 2 2011 2012
dbSNP: rs6687813
rs6687813
2 1 169508336 downstream gene variant A/C snv 0.93 0.700 1.000 2 2011 2012