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: rs7214041
rs7214041
LINC00511 ; LINC00673
1 1.000 0.120 17 72405335 intron variant C/T snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs73328514
rs73328514
TNS3
1 1.000 0.120 7 47448971 intron variant A/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs767964519
rs767964519
NFE2L2
2 0.925 0.120 2 177231869 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs77038344
rs77038344
TNS4
1 1.000 0.120 17 40487962 intron variant C/T snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs78417682
rs78417682
TNS3
2 0.925 0.120 7 47449305 intron variant G/C snv 0.15 0.010 < 0.001 1 2018 2018
dbSNP: rs980303898
rs980303898
GCG ; LOC101929532
4 0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10519097
rs10519097
RORA
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs10835188
rs10835188
LIN7C
2 1.000 0.120 11 27501639 intron variant G/T snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs10983614
rs10983614
ASTN2
1 1.000 0.120 9 117306874 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11943456
rs11943456
TMEM165
18 0.708 0.320 4 55410167 intron variant T/C snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs12362504
rs12362504
SBF2 ; LOC101928008
2 0.925 0.120 11 9907995 intron variant T/C snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs12620038
rs12620038
EPCAM-DT
1 1.000 0.120 2 47248996 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs16861827
rs16861827
IGSF21
1 1.000 0.120 1 18351676 intron variant C/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs17275283
rs17275283 		1 1.000 0.120 11 96970814 intron variant T/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs1799966
rs1799966
BRCA1
8 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1859168
rs1859168
HOTTIP
13 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1944788
rs1944788 		1 1.000 0.120 11 96947703 intron variant T/C snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs2218400
rs2218400 		1 1.000 0.120 13 63564941 intergenic variant C/A snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs2457571
rs2457571
SLC22A3
2 0.925 0.120 6 160413796 intron variant T/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs361052
rs361052
IQSEC1
1 1.000 0.120 3 13029299 intron variant A/G snv 0.73 0.700 1.000 1 2017 2017
dbSNP: rs3749474
rs3749474
CLOCK ; TMEM165
17 0.724 0.320 4 55434518 3 prime UTR variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs4285214
rs4285214
ZNF608
1 1.000 0.120 5 124688588 intron variant T/G snv 0.55 0.700 1.000 1 2017 2017