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: rs606231248
rs606231248
MRC1
3 0.882 0.080 10 17849701 missense variant G/A snv 0.32 0.710 1.000 1 2010 2010
dbSNP: rs1049432
rs1049432
TFAM
2 0.925 0.040 10 58395360 3 prime UTR variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10904831
rs10904831
CUBN
1 1.000 0.040 10 16889345 intron variant C/T snv 7.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs11012461
rs11012461
NEBL
1 1.000 0.040 10 20986398 intron variant G/A snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs12631031
rs12631031
PARL
2 0.925 0.040 3 183857982 intron variant G/A snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1801690
rs1801690
APOH
6 0.925 0.120 17 66212167 missense variant C/G snv 4.8E-02 4.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs2144658
rs2144658
C1orf141
1 1.000 0.040 1 67106212 intron variant A/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs2275606
rs2275606
ADGB ; LOC101928661
2 0.925 0.040 6 146597814 intron variant G/A snv 7.7E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs3138557
rs3138557
IFNG ; IFNG-AS1
4 0.851 0.080 12 68158711 intron variant CGAG/- delins 0.010 1.000 1 2012 2012
dbSNP: rs3176238
rs3176238
POLG ; FANCI
1 1.000 0.040 15 89317196 3 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3762318
rs3762318
C1orf141
3 0.925 0.040 1 67131436 intron variant G/A snv 0.83 0.010 < 0.001 1 2016 2016
dbSNP: rs405509
rs405509
APOE
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs439401
rs439401 		8 0.851 0.200 19 44911194 non coding transcript exon variant T/C snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs4581
rs4581
APOH
5 0.851 0.160 17 66214639 missense variant C/A;G snv 0.38; 4.0E-06; 4.0E-06 0.36 0.010 1.000 1 2010 2010
dbSNP: rs692527
rs692527
MRC1
3 0.882 0.120 10 17841064 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7653061
rs7653061
PARL ; MIR4448
2 0.925 0.040 3 183886132 intron variant T/G snv 0.12 0.010 1.000 1 2016 2016