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: rs10759944
rs10759944
PTCSC2
4 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.700 1.000 3 2009 2013
dbSNP: rs1443434
rs1443434
FOXE1
4 0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63 0.710 1.000 2 2009 2015
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: 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: rs907580
rs907580 		4 0.851 0.080 9 97860315 downstream gene variant T/A;C;G snv 0.710 1.000 2 2009 2015
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: rs925489
rs925489
PTCSC2
6 0.882 0.080 9 97784318 intron variant C/T snv 0.71 0.800 1.000 2 2010 2018
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: 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: rs1064795638
rs1064795638
BAP1
7 0.851 0.080 3 52403251 stop gained G/A snv 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.010 1.000 1 2011 2011
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: rs1443438
rs1443438
PTCSC2
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs145475805
rs145475805
TG
4 0.882 0.080 8 132887509 missense variant A/G snv 8.8E-05 3.3E-04 0.010 1.000 1 2009 2009
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