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: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2019 2019
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs2572431
rs2572431 		2 1.000 0.040 8 11247568 downstream gene variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2740210
rs2740210
OXT ; LOC101929098
7 0.827 0.120 20 3072609 downstream gene variant C/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs4813627
rs4813627 		2 1.000 0.040 20 3074867 downstream gene variant A/G snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs6269
rs6269
COMT ; MIR4761
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.010 1.000 1 2019 2019
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: rs7766029
rs7766029 		7 0.851 0.080 6 88137716 downstream gene variant T/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs876657421
rs876657421
CBS
11 0.763 0.240 21 43063074 coding sequence variant -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG delins 0.010 1.000 1 2019 2019
dbSNP: rs10005233
rs10005233
SNCA
1 1.000 0.040 4 89822180 3 prime UTR variant C/T snv 0.58 0.59 0.700 1.000 1 2018 2018
dbSNP: rs10034259
rs10034259
LINC02503
1 1.000 0.040 4 104012596 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs10112596
rs10112596
GATA4
3 0.925 0.120 8 11722293 intron variant A/G snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs1017730
rs1017730
AGBL2
1 1.000 0.040 11 47711942 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs10501320
rs10501320
MADD ; MADD-AS1
5 0.925 0.120 11 47272248 5 prime UTR variant G/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs10507274
rs10507274
C12orf49
2 1.000 0.040 12 116723171 missense variant T/C snv 4.7E-02 4.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs10769256
rs10769256
SPI1
1 1.000 0.040 11 47356845 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10850379
rs10850379
MMAB
1 1.000 0.040 12 109564972 non coding transcript exon variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs10871777
rs10871777 		6 0.925 0.120 18 60184530 intergenic variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs11090045
rs11090045
ZC3H7B
2 1.000 0.040 22 41357599 3 prime UTR variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11159097
rs11159097 		1 1.000 0.040 14 74633180 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11191392
rs11191392
WBP1L
1 1.000 0.040 10 102767194 intron variant C/A snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs11204421
rs11204421 		1 1.000 0.040 17 19994492 intergenic variant T/C snv 0.44 0.700 1.000 1 2018 2018
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: rs112591851
rs112591851
FPR1
1 1.000 0.040 19 51749131 intron variant C/T snv 2.1E-02 0.700 1.000 1 2018 2018