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: rs17619601
rs17619601
1 1.000 0.080 13 28326373 intron variant C/T snv 5.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs17625898
rs17625898
1 1.000 0.080 13 28358693 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs17708574
rs17708574
1 1.000 0.080 5 150141675 intron variant G/A snv 8.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs17749155
rs17749155
2 0.925 0.080 8 10210563 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs17757541
rs17757541
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1979654
rs1979654
2 0.925 0.080 16 86363229 TF binding site variant G/C snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs199620551
rs199620551
2 0.925 0.080 19 18693485 intron variant G/- del 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs199907548
rs199907548
5 0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2011 2011
dbSNP: rs2114039
rs2114039
2 1.000 0.080 4 54226459 intron variant T/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs2178146
rs2178146
8 0.827 0.080 16 86430089 downstream gene variant T/C snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs2188554
rs2188554
1 1.000 0.080 7 117400063 intron variant A/G snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs2236302
rs2236302
1 1.000 0.080 14 22843345 synonymous variant C/A;G snv 8.0E-06; 0.12 0.010 1.000 1 2011 2011
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2296188
rs2296188
2 0.925 0.200 13 28319347 intron variant T/C snv 0.70 0.010 1.000 1 2012 2012
dbSNP: rs2297518
rs2297518
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2008 2008
dbSNP: rs2341926
rs2341926
2 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs2342002
rs2342002
1 1.000 0.080 6 61285855 intergenic variant C/T snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs2434584
rs2434584
1 1.000 0.080 5 58270246 intergenic variant G/A snv 0.94 0.700 1.000 1 2018 2018
dbSNP: rs2445762
rs2445762
4 1.000 0.080 15 51325511 intron variant T/C snv 0.31 0.010 1.000 1 2011 2011
dbSNP: rs2464469
rs2464469
2 0.925 0.080 15 58069827 intron variant G/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs2518720
rs2518720
2 0.925 0.080 9 21978980 intron variant C/T snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs2687201
rs2687201
6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.800 1.000 1 2013 2013