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: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs17070145
rs17070145
WWC1
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.020 1.000 2 2012 2018
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs7840202
rs7840202
UBR5
4 0.851 0.160 8 102296172 intron variant A/C snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs781587642
rs781587642
TUBA4A ; STK16
6 0.851 0.120 2 219250557 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs111231532
rs111231532
TTC21A
1 1.000 0.040 3 39135911 intron variant C/T snv 5.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627
TSPEAR
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs145959269
rs145959269
TSNARE1
1 1.000 0.040 8 142275662 intron variant G/A snv 9.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs147368169
rs147368169
TSNARE1
1 1.000 0.040 8 142389482 intron variant A/G snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs200956582
rs200956582
TRIM34 ; TRIM5 ; TRIM6-TRIM34
1 1.000 0.040 11 5637380 intron variant A/- del 7.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2020 2020
dbSNP: rs6910730
rs6910730
TREM1
3 0.925 0.080 6 41278895 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs10524523
rs10524523
TOMM40
7 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.020 1.000 2 2015 2017
dbSNP: rs115881343
rs115881343
TOMM40
2 1.000 0.040 19 44899959 intron variant C/G;T snv 2.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs157582
rs157582
TOMM40
8 0.851 0.160 19 44892962 intron variant C/T snv 0.24 0.29 0.010 1.000 1 2019 2019
dbSNP: rs2075650
rs2075650
TOMM40
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1554948
rs1554948
TNK1
2 0.925 0.080 17 7383007 synonymous variant T/A;C snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2016 2016
dbSNP: rs117605016
rs117605016
TMEM132D
1 1.000 0.040 12 129129840 intron variant C/A snv 9.9E-03 0.700 1.000 1 2015 2015
dbSNP: rs1558027212
rs1558027212
TMCO1
7 0.827 0.320 1 165728096 frameshift variant GC/- del 0.700 0
dbSNP: rs1427575965
rs1427575965
TIA1 ; C2orf42
3 0.925 0.120 2 70212796 missense variant G/A snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs76495833
rs76495833
TGFBR2
1 1.000 0.040 3 30627911 intron variant C/G snv 1.8E-02 0.700 1.000 1 2015 2015