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: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs2516049
rs2516049
HLA-DRB1
12 0.742 0.400 6 32602623 intergenic variant T/C snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs597808
rs597808
ATXN2
19 0.742 0.200 12 111535554 intron variant A/G snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
dbSNP: rs4409785
rs4409785 		12 0.752 0.240 11 95578258 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs387907141
rs387907141
ARID1B
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 0
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: rs10774625
rs10774625
ATXN2
13 0.763 0.320 12 111472415 intron variant A/G snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs7582694
rs7582694
STAT4
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs189261858
rs189261858
TSHR ; LOC101928462
8 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 < 0.001 1 2009 2009
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs797044484
rs797044484
TP63
10 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
dbSNP: rs876661024
rs876661024
PTEN
11 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 0.700 0
dbSNP: rs886041116
rs886041116
ADNP
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
dbSNP: rs477515
rs477515
HLA-DRB1
10 0.790 0.400 6 32601914 intergenic variant G/A snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs6910071
rs6910071
TSBP1 ; TSBP1-AS1
7 0.790 0.320 6 32315077 intron variant A/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs794727931
rs794727931
ALG8
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1057516033
rs1057516033
KAT6B
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs2076738
rs2076738
TG
6 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 1998 1998