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: rs147394161
rs147394161
RAP1GAP
2 0.925 0.120 1 21598453 missense variant T/C snv 9.5E-03 1.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs183334241
rs183334241
TSHZ1
2 0.925 0.080 18 75288186 missense variant G/A;C snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs200817352
rs200817352
PAX8 ; PAX8-AS1
2 1.000 0.080 2 113220126 missense variant G/A;C snv 2.0E-03; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs373646414
rs373646414
DICER1
2 1.000 0.080 14 95132574 missense variant T/C snv 1.6E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs377767414
rs377767414
RET
2 0.925 0.080 10 43118397 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs78081605
rs78081605
TSHZ1
2 0.925 0.080 18 75288051 missense variant G/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
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
dbSNP: rs180414
rs180414
SLC38A4
3 0.882 0.080 12 46775115 synonymous variant A/G snv 3.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs2145418
rs2145418 		3 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 0.010 1.000 1 2008 2008
dbSNP: rs2708896
rs2708896
PKD1L1
3 0.882 0.080 7 47955186 upstream gene variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs377767427
rs377767427
RET
3 0.882 0.120 10 43120114 missense variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4658973
rs4658973
WDR3 ; SPAG17
3 0.882 0.080 1 117956431 intron variant T/G snv 0.34 0.010 1.000 1 2008 2008
dbSNP: rs538912281
rs538912281
FOXE1 ; PTCSC2
3 0.925 0.080 9 97854657 missense variant C/A;G;T snv 2.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs7037324
rs7037324
LOC112268051
3 0.882 0.080 9 97896036 regulatory region variant A/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs709399
rs709399
KLC1 ; XRCC3 ; LOC112268131
3 0.882 0.080 14 103701208 3 prime UTR variant G/A snv 0.59 0.61 0.010 1.000 1 2017 2017
dbSNP: rs747463591
rs747463591
CCDC6
3 0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06 0.010 1.000 1 2015 2015
dbSNP: rs779791579
rs779791579
PTCH1
3 0.882 0.080 9 95508325 missense variant G/C snv 7.8E-04 6.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs78929565
rs78929565
CLOCK
3 0.882 0.080 4 55539035 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs71369530
rs71369530
FOXE1 ; PTCSC2
4 0.851 0.080 9 97854419 inframe insertion GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC delins 0.68 0.020 1.000 2 2014 2014
dbSNP: rs1248131654
rs1248131654
RBMS1
4 0.851 0.080 2 160367217 missense variant G/A snv 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs13143866
rs13143866
IL21 ; IL21-AS1
4 0.851 0.200 4 122619603 intron variant G/A snv 0.24 0.010 1.000 1 2014 2014