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: rs1554950703
rs1554950703
2 1.000 0.200 10 122489463 missense variant C/G snv 0.700 1.000 6 2009 2016
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2008 2019
dbSNP: rs1800764
rs1800764
10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.020 1.000 2 2014 2014
dbSNP: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.710 1.000 2 2012 2019
dbSNP: rs10512015
rs10512015
1 9 73166330 intron variant T/C snv 9.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs10524523
rs10524523
7 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2017 2017
dbSNP: rs11030108
rs11030108
3 1.000 0.040 11 27673917 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2013 2013
dbSNP: rs112422930
rs112422930
4 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1157659
rs1157659
2 1.000 0.040 11 27736075 intron variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs115881343
rs115881343
2 1.000 0.040 19 44899959 intron variant C/G;T snv 2.9E-02 0.710 1.000 1 2014 2014
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: rs11887120
rs11887120
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 < 0.001 1 2016 2016
dbSNP: rs1206642175
rs1206642175
3 0.925 0.080 6 151808263 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121912456
rs121912456
6 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs13333659
rs13333659
2 1.000 0.040 16 88972472 intron variant G/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1557372
rs1557372
2 1.000 0.040 21 41460614 downstream gene variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs16885997
rs16885997
1 8 114496877 intergenic variant G/T snv 3.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs16947151
rs16947151
4 0.882 0.080 17 49213276 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs17070145
rs17070145
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs17518584
rs17518584
8 0.827 0.160 3 85555773 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs17641411
rs17641411
1 4 46941670 intron variant C/T snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17746510
rs17746510
5 0.882 0.080 2 173019562 intron variant T/C;G snv 0.010 < 0.001 1 2016 2016