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: 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: rs2145418
rs2145418 		3 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 0.010 1.000 1 2008 2008
dbSNP: rs4833837
rs4833837
IL21
5 0.827 0.200 4 122615808 synonymous variant G/A snv 0.74 0.77 0.010 1.000 1 2014 2014
dbSNP: rs2221903
rs2221903
IL21 ; IL21-AS1
12 0.752 0.360 4 122617757 intron variant C/T snv 0.77 0.010 1.000 1 2014 2014
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: 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: rs7028661
rs7028661
PTCSC2
4 0.882 0.080 9 97776188 intron variant A/G snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.710 1.000 3 2010 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: 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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 0.750 4 2012 2019
dbSNP: rs7037324
rs7037324
LOC112268051
3 0.882 0.080 9 97896036 regulatory region variant A/G snv 0.71 0.710 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2012 2012
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: rs10122541
rs10122541 		1 1.000 0.080 9 97865986 intergenic variant G/A snv 0.68 0.700 1.000 1 2015 2015
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: 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: 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: 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: rs861530
rs861530
KLC1 ; XRCC3 ; LOC112268131
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 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: rs1867277
rs1867277
FOXE1 ; PTCSC2
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.750 1.000 6 2009 2015
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: 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: rs2060793
rs2060793
CYP2R1
11 0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 0.010 1.000 1 2019 2019