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: rs4965272
rs4965272
ADAMTS17
1 1.000 0.040 15 100044534 intron variant T/A;G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs2295778
rs2295778
HIF1AN
1 1.000 0.040 10 100536079 missense variant C/G snv 0.25 0.20 0.010 1.000 1 2012 2012
dbSNP: rs7141987
rs7141987
MEG8 ; MIR323A ; MIR329-1 ; MIR329-2 ; MIR758 ; MIR1197
2 0.925 0.080 14 101025887 intron variant T/C snv 0.58 0.700 1.000 1 2018 2018
dbSNP: rs597808
rs597808
ATXN2
19 0.742 0.200 12 111535554 intron variant A/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs397507545
rs397507545
PTPN11
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2003 2006
dbSNP: rs10228350
rs10228350
FOXP2
2 1.000 0.040 7 114420608 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs12706746
rs12706746
GRM8
1 1.000 0.040 7 126802805 intron variant G/A snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs12268840
rs12268840
MGMT
6 0.827 0.200 10 129527035 intron variant C/T snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs648802
rs648802
PERP
1 1.000 0.040 6 138092196 missense variant G/C;T snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs809955
rs809955
MAML3
2 1.000 0.040 4 139953606 intron variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs1297211
rs1297211 		1 1.000 0.040 21 14956635 intron variant C/G snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs2341926
rs2341926 		2 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs12465911
rs12465911 		2 0.925 0.080 2 150929228 intergenic variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs13396805
rs13396805 		2 0.925 0.080 2 150964998 intergenic variant C/T snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs4855094
rs4855094
PIK3CA
1 1.000 0.040 3 179160189 intron variant G/A snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs1363119
rs1363119 		2 1.000 0.040 19 18333999 downstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4721096
rs4721096
MAD1L1 ; LOC100127955
1 1.000 0.040 7 1837675 intron variant T/C snv 0.84 0.700 1.000 1 2019 2019
dbSNP: rs12974777
rs12974777
KLHL26
1 1.000 0.040 19 18654853 intron variant C/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs13337626
rs13337626
TSC2
1 1.000 0.040 16 2075833 missense variant T/C;G snv 7.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs11901649
rs11901649
APOB
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7763910
rs7763910
BTN2A1 ; LOC285819
1 1.000 0.040 6 26472427 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs10940767
rs10940767
LINC02109
1 1.000 0.040 5 29001417 intron variant T/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs9257809
rs9257809
OR5V1 ; OR12D3
10 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs9266237
rs9266237
HLA-B
1 1.000 0.040 6 31357744 upstream gene variant G/C snv 0.72 0.700 1.000 1 2019 2019