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: rs1859788
rs1859788
PILRA
3 0.925 0.080 7 100374211 missense variant A/C;G snv 4.0E-06; 0.65 0.010 1.000 1 2019 2019
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2016 2019
dbSNP: rs7840202
rs7840202
UBR5
4 0.851 0.160 8 102296172 intron variant A/C snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs363050
rs363050
SNAP25 ; SNAP25-AS1
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.020 1.000 2 2019 2019
dbSNP: rs4684677
rs4684677
GHRL ; GHRLOS
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs8702
rs8702
KLC1
5 0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2007 2007
dbSNP: rs528528
rs528528
RELN
2 0.925 0.080 7 103748638 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs3764650
rs3764650
ABCA7
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2017 2017
dbSNP: rs4978818
rs4978818
PTPN3 ; PALM2AKAP2
2 0.925 0.120 9 109509949 intron variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7483
rs7483
GSTM3 ; GSTM5
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2010 2010
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2003 2011
dbSNP: rs4837766
rs4837766
CDK5RAP2
2 0.925 0.080 9 120402006 intron variant A/C;G;T snv 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: rs985421
rs985421
SORL1
2 0.925 0.080 11 121491607 intron variant G/A snv 3.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs641120
rs641120
SORL1
3 0.882 0.080 11 121510256 intron variant G/A snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs2298813
rs2298813
SORL1
7 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2070045
rs2070045
SORL1
4 0.851 0.080 11 121577381 synonymous variant T/G snv 0.32 0.23 0.010 1.000 1 2015 2015
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: rs1784933
rs1784933
SORL1
3 0.882 0.080 11 121618707 intron variant G/A snv 0.84 0.010 1.000 1 2016 2016
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