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: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2019 2019
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1421085
rs1421085
FTO
28 0.752 0.280 16 53767042 intron variant T/C snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019
dbSNP: rs10938397
rs10938397 		19 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs34517439
rs34517439
DNAJB4 ; GIPC2
7 0.882 0.120 1 77984833 intron variant C/A snv 7.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs6235
rs6235
PCSK1 ; LOC101929710
8 0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23 0.700 1.000 1 2019 2019
dbSNP: rs754388
rs754388
RIN3
7 0.882 0.120 14 92649065 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs9936385
rs9936385
FTO
5 0.925 0.120 16 53785257 intron variant T/C snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs16892496
rs16892496
TRHR
2 1.000 0.080 8 109097622 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs2207139
rs2207139 		4 1.000 0.080 6 50877777 intergenic variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs2531995
rs2531995
ADCY9
7 1.000 0.080 16 3963466 3 prime UTR variant C/T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs2885697
rs2885697
SCMH1
2 1.000 0.080 1 41078607 intron variant G/T snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs2943656
rs2943656 		2 1.000 0.080 2 226257202 regulatory region variant A/G snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs3818416
rs3818416
EDNRB ; EDNRB-AS1
3 1.000 0.080 13 77900333 intron variant A/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs543874
rs543874 		11 1.000 0.080 1 177920345 upstream gene variant A/G snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs5742915
rs5742915
PML
7 0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs6567160
rs6567160 		12 1.000 0.080 18 60161902 upstream gene variant T/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs7132908
rs7132908
FAIM2
4 1.000 0.080 12 49869365 3 prime UTR variant G/A snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs7223535
rs7223535
ATAD5
4 1.000 0.080 17 30884649 intron variant G/A snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs9388490
rs9388490
CENPW
4 1.000 0.080 6 126383649 intron variant C/T snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs62106258
rs62106258 		5 1.000 0.040 2 417167 upstream gene variant T/C snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs622871
rs622871
C2 ; CYP21A2
2 1.000 0.040 6 31910718 intron variant A/C;G snv 0.700 1.000 1 2019 2019