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: rs2296616
rs2296616
PANK1 ; MIR107
1 1.000 0.080 10 89593209 missense variant G/A;C snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.010 1.000 1 2015 2015
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.710 1.000 2 2015 2015
dbSNP: rs10216533
rs10216533
PSCA
1 1.000 0.080 8 142682272 3 prime UTR variant G/A;C snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs1050631
rs1050631
SLC39A6
4 0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 0.010 1.000 1 2019 2019
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs373526624
rs373526624
TTN ; TTN-AS1
1 1.000 0.080 2 178607095 missense variant C/T snv 7.0E-04 1.6E-04 0.700 0
dbSNP: rs200035802
rs200035802
BMPR1B
1 1.000 0.080 4 95104516 missense variant G/A snv 1.7E-04 1.5E-04 0.700 0
dbSNP: rs539470256
rs539470256
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.080 2 178779033 missense variant C/T snv 1.3E-04 7.7E-05 0.700 0
dbSNP: rs368222977
rs368222977
NTRK3
1 1.000 0.080 15 88147353 missense variant G/A;C;T snv 8.4E-05; 8.0E-06 0.700 0
dbSNP: rs199684560
rs199684560
TTN ; TTN-AS1
1 1.000 0.080 2 178633512 missense variant G/A snv 7.3E-05 4.2E-05 0.700 0
dbSNP: rs397517769
rs397517769
TTN ; TTN-AS1
1 1.000 0.080 2 178542408 missense variant C/T snv 5.6E-05 1.4E-05 0.700 0
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs566841339
rs566841339
SPEG ; ASIC4-AS1
1 1.000 0.080 2 219489128 missense variant G/A snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs782203759
rs782203759
TRRAP
1 1.000 0.080 7 98950120 missense variant G/A snv 2.4E-05 2.8E-05 0.700 0
dbSNP: rs762016655
rs762016655
EPHB4
1 1.000 0.080 7 100805514 missense variant G/A;C snv 2.2E-05; 5.5E-06 0.700 0
dbSNP: rs141014084
rs141014084
GRK6
1 1.000 0.080 5 177430911 missense variant G/A snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs146710304
rs146710304
ERN1
1 1.000 0.080 17 64054300 missense variant G/A;T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs138729528
rs138729528
TP53
25 0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs753660142
rs753660142
TP53
19 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs747576071
rs747576071
AXL
1 1.000 0.080 19 41243665 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0