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: rs1005734
rs1005734
1 1.000 0.080 1 24935531 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2005 2005
dbSNP: rs1057517491
rs1057517491
8 0.776 0.240 13 20189448 frameshift variant C/- delins 0.010 1.000 1 2011 2011
dbSNP: rs10808813
rs10808813
1 1.000 0.080 8 76604707 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10888690
rs10888690
7 0.807 0.080 1 50494849 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10930758
rs10930758
7 0.807 0.080 2 176897100 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11037975
rs11037975
7 0.807 0.080 11 44389312 intergenic variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs111238176
rs111238176
4 0.851 0.160 1 172665840 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs112069404
rs112069404
1 1.000 0.080 X 66331306 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11243290
rs11243290
1 1.000 0.080 6 9000190 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs113923480
rs113923480
XDH
1 1.000 0.080 2 31387425 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs115282290
rs115282290
1 1.000 0.080 1 204009986 downstream gene variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11594897
rs11594897
1 1.000 0.080 10 76617815 intergenic variant T/A;C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs116315504
rs116315504
1 1.000 0.080 1 203820951 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs116548533
rs116548533
4 0.851 0.280 20 54159083 missense variant C/A;T snv 4.0E-06; 4.2E-04 0.010 1.000 1 2017 2017
dbSNP: rs117463770
rs117463770
1 1.000 0.080 7 70142523 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs117584427
rs117584427
1 1.000 0.080 7 18848010 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12123537
rs12123537
1 1.000 0.080 1 203822046 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12144907
rs12144907
1 1.000 0.080 1 152145741 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs121909800
rs121909800
VDR
6 0.807 0.360 12 47844859 missense variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12447206
rs12447206
1 1.000 0.080 16 85285793 non coding transcript exon variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs12472159
rs12472159
1 1.000 0.080 2 176826815 downstream gene variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12558842
rs12558842
2 0.925 0.080 X 67261958 intergenic variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1276250
rs1276250
1 1.000 0.080 18 44860573 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs13092705
rs13092705
1 1.000 0.080 3 182519244 intron variant G/A;T snv 0.700 1.000 1 2017 2017