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: rs10122541
rs10122541 		1 1.000 0.080 9 97865986 intergenic variant G/A snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs12129938
rs12129938
PCNX2
1 1.000 0.080 1 233276815 intron variant A/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs1443435
rs1443435
FOXE1
1 1.000 0.080 9 97855301 3 prime UTR variant T/C snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs2289261
rs2289261
SMAD3
1 1.000 0.080 15 67165147 intron variant G/C;T snv 0.61 0.700 1.000 1 2017 2017
dbSNP: rs2466076
rs2466076
NRG1
1 1.000 0.080 8 32575278 intron variant G/T snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs73227498
rs73227498
EPB41L4A
1 1.000 0.080 5 112150207 intron variant A/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs1588635
rs1588635
PTCSC2
2 1.000 0.080 9 97775520 intron variant A/C snv 0.72 0.800 1.000 2 2010 2017
dbSNP: rs925487
rs925487 		2 0.925 0.080 9 97874116 regulatory region variant C/A;T snv 0.700 1.000 2 2009 2013
dbSNP: rs10983700
rs10983700
PTCSC2
2 1.000 0.080 9 97775173 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs10984103
rs10984103 		2 0.925 0.080 9 97876993 TF binding site variant A/C snv 0.68 0.700 1.000 1 2009 2009
dbSNP: rs11693806
rs11693806
DIRC3
2 0.925 0.120 2 217427435 non coding transcript exon variant C/A;G snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs1179469165
rs1179469165
TSHR ; LOC101928462
2 0.925 0.080 14 81143917 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12348691
rs12348691
PTCSC2
2 0.925 0.120 9 97846400 intron variant G/A snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs368187
rs368187
LOC105370452
2 0.925 0.080 14 36063370 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6759952
rs6759952
DIRC3
2 1.000 0.080 2 217406996 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs7024345
rs7024345
PTCSC2
2 0.925 0.080 9 97832956 intron variant A/G snv 0.82 0.700 1.000 1 2009 2009
dbSNP: rs7030280
rs7030280
PTCSC2
2 1.000 0.080 9 97772985 intron variant C/T snv 0.72 0.700 1.000 1 2010 2010
dbSNP: rs7848973
rs7848973
PTCSC2
2 0.925 0.080 9 97826557 intron variant A/G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs7866436
rs7866436 		2 0.925 0.080 9 97887814 intergenic variant G/A snv 0.70 0.700 1.000 1 2013 2013
dbSNP: rs7902587
rs7902587 		2 0.925 0.080 10 103934543 intergenic variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs1031583860
rs1031583860
GLYAT
3 0.882 0.080 11 58709815 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1032006770
rs1032006770
EGFR
3 0.882 0.080 7 55160171 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs10951937
rs10951937
SUN3
3 0.882 0.080 7 47992027 intron variant A/C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs12769288
rs12769288
MGMT
3 0.882 0.080 10 129488086 intron variant C/T snv 0.10 0.010 1.000 1 2018 2018
dbSNP: rs1365943053
rs1365943053
PTCH1
3 0.882 0.080 9 95516630 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014