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: rs4846044
rs4846044
C1orf167 ; C1orf167-AS1
2 1 11779941 missense variant T/C;G snv 0.95 0.700 1.000 1 2018 2018
dbSNP: rs2272007
rs2272007
ULK4
2 1.000 0.160 3 41954644 missense variant T/C snv 0.79 0.67 0.700 1.000 2 2016 2016
dbSNP: rs4245739
rs4245739
MDM4
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.700 1.000 2 2016 2018
dbSNP: rs1250259
rs1250259
FN1 ; LOC105373868
5 1.000 0.040 2 215435759 missense variant T/A snv 0.76 0.79 0.700 1.000 1 2019 2019
dbSNP: rs3745318
rs3745318
KLF2
2 1.000 0.080 19 16325451 missense variant T/C snv 0.75 0.82 0.700 1.000 1 2018 2018
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.700 1.000 3 2017 2018
dbSNP: rs7302981
rs7302981
CERS5
4 12 50144032 missense variant A/G;T snv 0.69 0.71 0.700 1.000 2 2016 2016
dbSNP: rs9306160
rs9306160
RRP1B
5 0.925 0.080 21 43687681 missense variant T/C snv 0.69 0.73 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 10 2009 2019
dbSNP: rs2240736
rs2240736
TBX2
4 17 61408032 non coding transcript exon variant C/T snv 0.64 0.68 0.700 1.000 2 2017 2018
dbSNP: rs592373
rs592373
LSP1
5 0.925 0.080 11 1869760 intron variant G/A;T snv 0.63; 6.8E-06 0.700 1.000 1 2016 2016
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs9932866
rs9932866
WDR90
1 16 656067 non coding transcript exon variant G/A snv 0.57 0.54 0.700 1.000 1 2018 2018
dbSNP: rs7524019
rs7524019
POU2F1
1 1 167397956 intron variant C/G;T snv 4.3E-06; 0.51 0.700 1.000 1 2018 2018
dbSNP: rs4653889
rs4653889
WNT9A
2 1 227924420 intron variant A/G snv 0.51 0.56 0.700 1.000 1 2017 2017
dbSNP: rs2009733
rs2009733
KANK3
1 19 8333830 missense variant A/C;G snv 1.4E-05; 0.48 0.700 1.000 1 2018 2018
dbSNP: rs2307111
rs2307111
POC5
5 0.925 0.120 5 75707853 missense variant T/A;C snv 4.5E-06; 0.47 0.700 1.000 1 2019 2019
dbSNP: rs661348
rs661348
LSP1
5 11 1884062 intron variant T/C snv 0.43 0.37 0.700 1.000 2 2017 2018
dbSNP: rs6418
rs6418
CYP11B2 ; GML
4 8 142914947 intron variant A/C;G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs7599598
rs7599598
FER1L5
2 2 96686103 missense variant A/G;T snv 0.41 0.700 1.000 3 2017 2018
dbSNP: rs1848510
rs1848510
PLK2
2 5 58458178 splice region variant G/A snv 0.40 0.35 0.700 1.000 1 2018 2018
dbSNP: rs6722745
rs6722745
SULT1C3
2 2 108258788 missense variant T/C;G snv 0.39 0.41 0.700 1.000 1 2016 2016
dbSNP: rs2854746
rs2854746
IGFBP3
14 0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs12474050
rs12474050
GMPPA ; SPEGNB ; ASIC4-AS1
1 2 219497835 missense variant C/A;T snv 1.3E-03; 0.37 0.700 1.000 1 2018 2018
dbSNP: rs2270860
rs2270860
SLC22A7 ; CRIP3
4 6 43302413 splice region variant C/T snv 0.37 0.43 0.700 1.000 2 2018 2018