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: rs6330
rs6330
NGF ; NGF-AS1
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.020 0.500 2 2008 2012
dbSNP: rs10801153
rs10801153 		3 0.925 0.080 1 192794818 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs112146896
rs112146896
EFHD2
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs12145083
rs12145083 		1 1.000 0.040 1 197853864 intergenic variant T/A snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1296171
rs1296171
PSEN2 ; LOC105373119
1 1.000 0.040 1 226871905 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1938386
rs1938386
COQ8A ; LOC107985354
1 1.000 0.040 1 226909338 intron variant G/T snv 0.57 0.700 1.000 1 2018 2018
dbSNP: rs228697
rs228697
PER3
5 0.882 0.080 1 7827519 missense variant C/G snv 8.7E-02 7.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2478813
rs2478813
PLXNA2
4 0.882 0.080 1 208073865 intron variant A/G snv 0.85 0.010 1.000 1 2007 2007
dbSNP: rs2488401
rs2488401
DENND1B
1 1.000 0.040 1 197733271 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs324420
rs324420
FAAH
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2016 2016
dbSNP: rs332828
rs332828
NFIA
1 1.000 0.040 1 61277021 intron variant G/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs34644694
rs34644694 		1 1.000 0.040 1 117274369 intron variant C/A snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs4606
rs4606
RGS2
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs488359
rs488359
LOC107984941
1 1.000 0.040 1 36698055 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs57875989
rs57875989
PER3
7 0.882 0.080 1 7829913 splice acceptor variant GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC delins 0.11 0.18 0.010 1.000 1 2018 2018
dbSNP: rs61731122
rs61731122
CACHD1
1 1.000 0.040 1 64632626 synonymous variant G/A;T snv 1.8E-02; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs7528604
rs7528604
PDE4B
3 0.925 0.040 1 65941669 intron variant G/A snv 0.42 0.010 1.000 1 2019 2019
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: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs17196295
rs17196295
SATB2
1 1.000 0.040 2 199287475 intron variant A/G snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs2672852
rs2672852 		1 1.000 0.040 2 103455652 intergenic variant C/T snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs730356
rs730356 		1 1.000 0.040 2 147779492 intergenic variant T/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs7567451
rs7567451
LINC01876
1 1.000 0.040 2 156196868 intron variant G/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs78260322
rs78260322
RNF103-CHMP3 ; LOC105374845
1 1.000 0.040 2 86566075 intron variant A/G snv 7.4E-02 0.700 1.000 1 2018 2018