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: rs10407447
rs10407447
PLD3
1 1.000 0.040 19 40363275 intron variant A/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs1130399
rs1130399
HLA-DQB1
1 1.000 0.040 6 32661978 missense variant G/A;T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs11556510
rs11556510
TOMM40
1 1.000 0.040 19 44891562 missense variant T/G snv 9.8E-03 1.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11667768
rs11667768
PLD3 ; C19orf47
1 1.000 0.040 19 40348525 5 prime UTR variant C/T snv 6.3E-02 0.11 0.010 1.000 1 2018 2018
dbSNP: rs1187120
rs1187120 		3 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs1334496
rs1334496 		1 1.000 0.040 X 137178554 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs227959
rs227959 		1 1.000 0.040 17 3406923 upstream gene variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs2534672
rs2534672
MICB
1 1.000 0.040 6 31497781 intron variant G/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs4829605
rs4829605 		1 1.000 0.040 X 137182822 intergenic variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs640476
rs640476 		1 1.000 0.040 5 161277998 intergenic variant T/G snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs774321998
rs774321998
MTHFR ; C1orf167
1 1.000 0.040 1 11790683 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs8052688
rs8052688
UBE2I
1 1.000 0.040 16 1322182 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs8063
rs8063
UBE2I
1 1.000 0.040 16 1324817 3 prime UTR variant A/C;G snv 4.0E-06; 4.0E-06; 0.71 0.010 1.000 1 2009 2009
dbSNP: rs9527025
rs9527025
KL
1 1.000 0.040 13 33054056 missense variant G/C;T snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1010159
rs1010159
SORL1
3 0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55 0.010 1.000 1 2015 2015
dbSNP: rs10119
rs10119
TOMM40
5 0.925 0.080 19 44903416 3 prime UTR variant G/A snv 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs111943087
rs111943087
CSF1R
2 0.925 0.080 5 150059725 missense variant G/A snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs11218304
rs11218304
SORL1 ; LOC105369535
2 0.925 0.080 11 121478402 intron variant A/G snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs11767557
rs11767557
EPHA1-AS1
4 0.882 0.080 7 143412046 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs11887120
rs11887120
DNMT3A
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs12053868
rs12053868
IL1RAP
2 0.925 0.080 3 190582215 intron variant A/G snv 8.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs15009
rs15009
PLK2
2 0.925 0.080 5 58454523 3 prime UTR variant C/G snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs157581
rs157581
TOMM40
3 0.925 0.080 19 44892457 synonymous variant T/C snv 0.25 0.29 0.010 1.000 1 2014 2014
dbSNP: rs16947151
rs16947151
ABI3
4 0.882 0.080 17 49213276 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019