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: rs773243225
rs773243225
1 1.000 0.036 4 3532232 stop gained G/A snp 6.4E-06 0.700 4 2013 2016
dbSNP: rs1057518881
rs1057518881
4 0.878 0.143 15 48513656 missense variant C/A,T snp 0.700 1 2015 2015
dbSNP: rs1057518891
rs1057518891
6 0.923 0.071 8 60854479 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs1057518909
rs1057518909
5 1.000 0.036 15 48534099 frameshift variant CTTCA/C in-del 0.700 1 2015 2015
dbSNP: rs1057518938
rs1057518938
5 0.846 0.071 16 15724166 missense variant C/G snp 0.700 1 2015 2015
dbSNP: rs121912882
rs121912882
3 0.878 0.250 12 47979534 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs28940881
rs28940881
14 0.801 0.179 11 89177954 start lost A/G snp 6.4E-05 9.6E-05 0.700 1 2015 2015
dbSNP: rs533297350
rs533297350
5 1.000 0.036 2 227010441 missense variant C/T snp 7.2E-05 3.2E-05 0.700 1 2015 2015
dbSNP: rs569681869
rs569681869
5 1.000 0.036 2 227059468 missense variant C/G snp 7.2E-05 3.2E-05 0.700 1 2015 2015
dbSNP: rs61754381
rs61754381
8 0.784 0.179 11 89227816 splice region variant T/A,C snp 9.5E-04; 8.0E-06 1.6E-04 0.700 1 2015 2015
dbSNP: rs1057518799
rs1057518799
7 0.923 0.071 1 151430715 frameshift variant T/TGATTGGCA in-del 0.700 0
dbSNP: rs1057518812
rs1057518812
8 0.878 0.143 15 48430742 missense variant T/A snp 0.700 0
dbSNP: rs1057518829
rs1057518829
2 1.000 0.036 X 49230343 stop gained T/A snp 0.700 0
dbSNP: rs752134549
rs752134549
6 0.878 0.107 12 122517404 missense variant C/T snp 1.6E-05 3.2E-05 0.700 0
dbSNP: rs10033900
rs10033900
CFI
4 0.846 0.036 4 109737911 intron variant T/C snp 0.52 0.010 1.000 1 2012 2012
dbSNP: rs10272030
rs10272030
HGF
1 1.000 0.036 7 81720907 intron variant G/A snp 0.85 0.010 1.000 1 2010 2010
dbSNP: rs10453441
rs10453441
2 1.000 0.036 22 45967859 intron variant A/G snp 0.40 0.010 1.000 1 2016 2016
dbSNP: rs10488
rs10488
1 1.000 0.036 11 102797291 synonymous variant C/G,T snp 4.0E-06; 5.7E-02 8.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs10936538
rs10936538
1 1.000 0.036 3 167439281 intergenic variant C/A,T snp 0.41 0.010 1.000 1 2012 2012
dbSNP: rs11225395
rs11225395
2 0.923 0.107 11 102725749 intron variant A/C,G snp 0.62 0.010 1.000 1 2013 2013
dbSNP: rs12536657
rs12536657
HGF
2 0.923 0.036 7 81720892 intron variant A/G snp 0.84 0.85 0.010 1.000 1 2010 2010
dbSNP: rs12603825
rs12603825
1 1.000 0.036 17 1770111 intron variant G/A,T snp 0.30 0.010 1.000 1 2013 2013
dbSNP: rs12716080
rs12716080
2 0.923 0.036 5 11166836 intron variant G/T snp 0.40 0.010 < 0.001 1 2011 2011
dbSNP: rs131451
rs131451
1 1.000 0.036 22 23771357 intron variant C/T snp 0.82 0.010 1.000 1 2013 2013
dbSNP: rs13382811
rs13382811
3 0.878 0.036 2 144466053 intron variant C/T snp 0.20 0.010 1.000 1 2018 2018