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: rs748448196
rs748448196
ZNF644
1 1.000 0.040 1 90939337 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs869422
rs869422
ZMAT4
1 1.000 0.040 8 40866451 intron variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs13382811
rs13382811
ZEB2
4 0.882 0.040 2 144466053 intron variant C/T snv 0.21 0.020 0.500 2 2017 2019
dbSNP: rs10453441
rs10453441
WNT7B
3 1.000 0.040 22 45967859 intron variant A/G snv 0.40 0.020 1.000 2 2015 2018
dbSNP: rs200329677
rs200329677
WNT7B
1 1.000 0.040 22 45973898 intron variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs9330813
rs9330813
WNT7B
4 1.000 0.040 22 45968281 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs2853559
rs2853559
VDR
1 1.000 0.040 12 47889022 intron variant A/G snv 0.68 0.010 1.000 1 2011 2011
dbSNP: rs876657731
rs876657731
USH2A ; LOC102723833
6 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs2839471
rs2839471
UMODL1
1 1.000 0.040 21 42134346 intron variant C/T snv 0.39 0.010 < 0.001 1 2011 2011
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
16 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
8 0.790 0.200 11 89227816 splice region variant T/A;C snv 9.5E-04; 8.0E-06 0.700 0
dbSNP: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs11145488
rs11145488
TJP2
1 1.000 0.040 9 69156023 intron variant G/A snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs826220
rs826220
THRB
1 1.000 0.040 3 24227186 intron variant C/T snv 0.70 0.700 1.000 1 2016 2016
dbSNP: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs2207136
rs2207136
TFAP2B
1 1.000 0.040 6 50842007 intron variant T/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs56299331
rs56299331
TCF7L2
1 1.000 0.040 10 113028677 intron variant C/T snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs1057518848
rs1057518848
TCF4
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0