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: rs37060
rs37060
1 16 58532400 splice region variant G/A snv 0.29 0.24 0.800 1.000 2 2012 2019
dbSNP: rs4657178
rs4657178
1 1 162240820 intron variant C/A;G;T snv 0.31 0.800 1.000 2 2009 2019
dbSNP: rs4725982
rs4725982
1 7 150940775 downstream gene variant C/T snv 0.26 0.800 1.000 2 2009 2019
dbSNP: rs545833
rs545833
DPT
1 1 168720702 intron variant C/T snv 0.29 0.800 1.000 2 2009 2014
dbSNP: rs7188697
rs7188697
1 16 58588274 intron variant G/A snv 0.76 0.800 1.000 2 2009 2019
dbSNP: rs11129795
rs11129795
1 3 38547672 downstream gene variant G/A snv 0.21 0.800 1.000 1 2009 2009
dbSNP: rs12210810
rs12210810
1 6 118332041 intergenic variant G/C;T snv 0.800 1.000 1 2009 2009
dbSNP: rs12576239
rs12576239
3 1.000 0.080 11 2481089 intron variant C/T snv 0.16 0.800 1.000 1 2009 2009
dbSNP: rs1348582
rs1348582
1 12 20378822 intron variant T/C snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs1380181
rs1380181
1 17 15289739 intron variant A/G snv 0.75 0.800 1.000 1 2012 2012
dbSNP: rs17779747
rs17779747
2 1.000 0.040 17 70498851 regulatory region variant G/T snv 0.24 0.800 1.000 1 2009 2009
dbSNP: rs2204037
rs2204037
1 13 62862667 intergenic variant A/G snv 0.65 0.800 1.000 1 2012 2012
dbSNP: rs2478333
rs2478333
1 13 47588423 intergenic variant C/A;T snv 0.24 0.800 1.000 1 2009 2009
dbSNP: rs2579330
rs2579330
1 4 71261172 intron variant C/T snv 0.88 0.800 1.000 1 2012 2012
dbSNP: rs2650951
rs2650951
1 3 122649500 intergenic variant C/T snv 0.13 0.800 1.000 1 2009 2009
dbSNP: rs4318720
rs4318720
1 4 117411099 non coding transcript exon variant G/A snv 0.12 0.800 1.000 1 2009 2009
dbSNP: rs652889
rs652889
1 3 61808380 intron variant C/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs6845865
rs6845865
2 4 148053451 intron variant T/C snv 0.27 0.800 1.000 1 2009 2009
dbSNP: rs6873793
rs6873793
1 5 3092078 intergenic variant C/T snv 0.56 0.800 1.000 1 2012 2012
dbSNP: rs6894385
rs6894385
1 5 73981078 intergenic variant A/C snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs7728043
rs7728043
1 5 5897581 intergenic variant T/C snv 0.46 0.800 1.000 1 2009 2009
dbSNP: rs7729539
rs7729539
1 5 65121851 upstream gene variant T/C snv 2.0E-02 0.800 1.000 1 2012 2012
dbSNP: rs789852
rs789852
1 3 194606369 intron variant T/C snv 0.93 0.800 1.000 1 2009 2009
dbSNP: rs8015016
rs8015016
1 14 95656071 intron variant A/G snv 0.22 0.800 1.000 1 2009 2009
dbSNP: rs9342616
rs9342616
1 6 67176026 intergenic variant A/C;G snv 0.57 0.800 1.000 1 2013 2013