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: rs9866391
rs9866391
PXYLP1 ; ZBTB38
2 1.000 0.040 3 141357242 intron variant T/C snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs9747347
rs9747347
NPLOC4 ; TSPAN10
2 1.000 0.040 17 81639794 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs9585327
rs9585327 		1 1.000 0.040 13 100037100 intergenic variant G/A snv 0.36 0.700 1.000 1 2016 2016
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: rs9321170
rs9321170
LAMA2 ; LOC102723409
1 1.000 0.040 6 129501692 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs9318086
rs9318086
MIPEP
3 0.882 0.040 13 23858328 intron variant A/G snv 0.55 0.020 1.000 2 2019 2019
dbSNP: rs886041091
rs886041091
NTRK2
18 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
dbSNP: rs879255531
rs879255531
EHMT1
5 0.882 0.400 9 137728379 stop gained C/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: rs876657731
rs876657731
USH2A ; LOC102723833
6 0.807 0.200 1 216073096 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
11 0.851 0.360 6 157181155 frameshift variant AA/- delins 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: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
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: rs8027411
rs8027411
ANKRD34C-AS1
4 0.882 0.040 15 79168687 intron variant G/T snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs7968679
rs7968679
PZP ; KLRG1
1 1.000 0.040 12 9160708 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs79002828
rs79002828
FGF10
2 0.925 0.040 5 44318015 intron variant A/G snv 9.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs7839488
rs7839488
SNTB1
4 0.882 0.040 8 120550178 intron variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs7744813
rs7744813
KCNQ5
3 0.925 0.040 6 72933566 intron variant C/A snv 0.66 0.710 1.000 2 2016 2017
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs755604487
rs755604487
PHIP
10 0.790 0.200 6 79026079 stop gained G/A;C snv 0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
6 0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0