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: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs55873183
rs55873183
DMRT1
1 1.000 0.120 9 878563 intron variant A/G snv 4.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs17336718
rs17336718
TKTL1
1 1.000 0.120 X 154307767 intron variant C/T snv 4.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs12434245
rs12434245
ESR2 ; SYNE2
1 1.000 0.120 14 64225135 intron variant C/T snv 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs61408740
rs61408740
LHPP
1 1.000 0.120 10 124586043 intron variant C/G snv 8.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs17198432
rs17198432 		1 1.000 0.120 2 175524333 intergenic variant C/A snv 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2075789
rs2075789
MSH5 ; MSH5-SAPCD1 ; LOC105375020
6 0.882 0.120 6 31740551 missense variant C/T snv 0.13 9.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs34601376
rs34601376 		1 1.000 0.120 19 23868026 intron variant A/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs58521262
rs58521262
LINC01859
1 1.000 0.120 19 23022382 intron variant G/A snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs2241024
rs2241024
LINC00662
1 1.000 0.120 19 27766485 intron variant G/A snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs6821144
rs6821144
CDKL2
1 1.000 0.120 4 75595467 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs10137185
rs10137185
ESR2
2 0.925 0.200 14 64309058 intron variant C/T snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs12481572
rs12481572
ZFP64 ; LOC105372664
1 1.000 0.120 20 52091515 intron variant A/T snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs11202586
rs11202586 		1 1.000 0.120 10 87852267 intergenic variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs210138
rs210138
BAK1 ; GGNBP1
5 0.851 0.240 6 33574761 intron variant A/G snv 0.19 0.800 1.000 5 2009 2017
dbSNP: rs11071896
rs11071896
ZWILCH
2 1.000 0.120 15 66528912 missense variant A/G snv 0.23 0.20 0.700 1.000 1 2017 2017
dbSNP: rs11705932
rs11705932
TFDP2
1 1.000 0.120 3 142100008 intron variant C/T snv 0.20 0.710 1.000 2 2015 2017
dbSNP: rs2713206
rs2713206
TFCP2L1
1 1.000 0.120 2 121250365 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs10510452
rs10510452 		2 1.000 0.120 3 16583541 downstream gene variant A/G snv 0.22 0.800 1.000 4 2013 2017
dbSNP: rs60180747
rs60180747
TIPIN
1 1.000 0.120 15 66370923 intron variant A/C snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs3790672
rs3790672
UCK2
2 1.000 0.120 1 165904155 non coding transcript exon variant T/C snv 0.24 0.800 1.000 4 2013 2017
dbSNP: rs1009647
rs1009647
ATG14
2 1.000 0.120 14 55413329 upstream gene variant G/A snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs1510272
rs1510272 		1 1.000 0.120 3 156582935 regulatory region variant C/T snv 0.25 0.700 1.000 2 2017 2017
dbSNP: rs3778991
rs3778991
MAD1L1
1 1.000 0.120 7 2132820 intron variant G/A snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs12699477
rs12699477
MAD1L1
2 1.000 0.120 7 1929317 intron variant T/C snv 0.28 0.800 1.000 3 2013 2017