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: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.820 1.000 4 2011 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.800 1.000 3 2012 2019
dbSNP: rs17020055
rs17020055
VAV3
1 1.000 0.040 1 107793911 intron variant A/C snv 0.11 0.800 1.000 2 2012 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2012 2019
dbSNP: rs925489
rs925489
PTCSC2
6 0.882 0.080 9 97784318 intron variant C/T snv 0.71 0.800 1.000 2 2011 2012
dbSNP: rs2517532
rs2517532 		2 0.925 0.120 6 31050630 upstream gene variant A/G snv 0.60 0.800 1.000 1 2012 2012
dbSNP: rs3129720
rs3129720 		4 0.851 0.280 6 32695854 intergenic variant T/C snv 0.76 0.800 1.000 1 2012 2012
dbSNP: rs4915077
rs4915077
VAV3
1 1.000 0.040 1 107823394 intron variant T/C snv 9.0E-02 0.800 1.000 1 2012 2012
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs948426
rs948426
LINC01387 ; LOC105371972
1 1.000 0.040 18 6567183 intron variant A/G snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs10759944
rs10759944
PTCSC2
4 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.710 1.000 3 2011 2014
dbSNP: rs11675342
rs11675342
TPO
5 0.851 0.040 2 1403856 intron variant C/T snv 0.40 0.700 1.000 3 2016 2019
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs10748781
rs10748781 		11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs1079418
rs1079418
PDE10A
1 1.000 0.040 6 165633546 intron variant A/G snv 0.32 0.700 1.000 2 2016 2019
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.700 1.000 2 2016 2019
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs10036386
rs10036386
PDE8B
2 1.000 0.040 5 77247778 intron variant C/T snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs10180754
rs10180754
LINC01934
1 1.000 0.040 2 181238244 splice region variant G/A snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs10223666
rs10223666
LOC105375069 ; LOC107986598
3 1.000 0.040 6 43837765 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10277273
rs10277273
FOXK1
1 1.000 0.040 7 4745498 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1032129
rs1032129
TNFRSF11B
5 0.851 0.040 8 118939661 intron variant A/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs10424978
rs10424978 		4 0.851 0.080 19 4837545 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1047578
rs1047578
NAA25
1 1.000 0.040 12 112027325 3 prime UTR variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10489626
rs10489626
IL12RB2
1 1.000 0.040 1 67327488 intron variant C/G;T snv 0.17 0.700 1.000 1 2019 2019