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: rs4324715
rs4324715 		2 0.925 0.160 5 142289942 regulatory region variant C/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs757545210
rs757545210
STK10
1 1.000 0.120 5 172105697 missense variant T/C snv 0.700 0
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: rs11155671
rs11155671
KATNA1
1 1.000 0.120 6 149650996 upstream gene variant G/A snv 0.46 0.700 1.000 1 2017 2017
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: 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: rs12699477
rs12699477
MAD1L1
2 1.000 0.120 7 1929317 intron variant T/C snv 0.28 0.800 1.000 3 2013 2017
dbSNP: rs10275045
rs10275045
MAD1L1
5 0.882 0.160 7 1881190 intron variant C/T snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs11769858
rs11769858 		1 1.000 0.120 7 158708801 upstream gene variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
dbSNP: rs17689040
rs17689040
LOC105375242
1 1.000 0.120 7 40880714 intergenic variant C/G;T snv 0.700 1.000 1 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: rs7010162
rs7010162
PRDM14
2 1.000 0.120 8 70064270 intron variant C/T snv 0.52 0.800 1.000 3 2013 2017
dbSNP: rs17153755
rs17153755
GATA4
1 1.000 0.120 8 11753991 intron variant C/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs755383
rs755383
DMRT1
7 0.807 0.120 9 863635 intron variant C/T snv 0.54 0.800 1.000 3 2013 2017
dbSNP: rs7040024
rs7040024
DMRT1
4 0.925 0.120 9 845516 intron variant A/C;G snv 0.700 1.000 2 2017 2017
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: rs11202586
rs11202586 		1 1.000 0.120 10 87852267 intergenic variant T/C snv 0.18 0.010 1.000 1 2013 2013
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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs648090
rs648090
PKNOX2
1 1.000 0.120 11 125201267 intron variant A/G snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs7107174
rs7107174
GAB2
1 1.000 0.120 11 78286890 intron variant C/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs995030
rs995030
KITLG
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.720 1.000 5 2009 2019
dbSNP: rs2900333
rs2900333
ATF7IP
6 0.882 0.200 12 14500933 3 prime UTR variant C/A;G;T snv 0.800 1.000 3 2013 2017