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: rs10524523
rs10524523
TOMM40
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 2014 2014
dbSNP: rs200803778
rs200803778
LINC02010
1 1.000 0.080 3 146921799 non coding transcript exon variant TTTG/- delins 1.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs11435035
rs11435035
AP3S2 ; ARPIN-AP3S2 ; MIR5094
1 1.000 0.080 15 89850718 non coding transcript exon variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs113932007
rs113932007 		1 1.000 0.080 11 115620719 intergenic variant TT/-;T;TTT;TTTT;TTTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs138270994
rs138270994 		2 1.000 0.080 13 22791997 intergenic variant TCTTTG/- delins 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs149935213
rs149935213
SLC30A8 ; LOC105375716
1 1.000 0.080 8 117158059 intron variant TCT/- delins 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs72156956
rs72156956 		1 1.000 0.080 2 640987 intergenic variant TACA/-;TACATACA delins 0.700 1.000 1 2019 2019
dbSNP: rs3214606
rs3214606
SINHCAF ; FLJ13224
1 1.000 0.080 12 31324008 5 prime UTR variant TAAG/-;TAAGTAAG delins 7.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2000 2017
dbSNP: rs163184
rs163184
KCNQ1
1 1.000 0.080 11 2825839 intron variant T/G snv 0.40 0.810 1.000 8 2010 2018
dbSNP: rs10885122
rs10885122 		4 1.000 0.080 10 111282335 intergenic variant T/G snv 0.71 0.030 1.000 3 2011 2013
dbSNP: rs1569699
rs1569699
CDKAL1
1 1.000 0.080 6 20679079 intron variant T/G snv 0.41 0.700 1.000 3 2007 2011
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2010 2014
dbSNP: rs6017317
rs6017317 		1 1.000 0.080 20 44318326 intergenic variant T/G snv 0.30 0.810 0.667 3 2011 2017
dbSNP: rs76895963
rs76895963
CCND2 ; CCND2-AS1
6 1.000 0.080 12 4275678 intron variant T/G snv 1.5E-02 0.700 1.000 3 2018 2019
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.020 1.000 2 2011 2017
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2014 2014
dbSNP: rs4458523
rs4458523
WFS1
3 1.000 0.080 4 6288259 intron variant T/G snv 0.61 0.800 1.000 2 2012 2014
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.020 0.500 2 2003 2007
dbSNP: rs7633675
rs7633675
IGF2BP2
1 1.000 0.080 3 185792825 intron variant T/G snv 0.45 0.800 1.000 2 2011 2019
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 1.000 2 2012 2016
dbSNP: rs8108269
rs8108269 		2 1.000 0.080 19 45655255 downstream gene variant T/G snv 0.35 0.800 1.000 2 2012 2018
dbSNP: rs9460546
rs9460546
CDKAL1
1 1.000 0.080 6 20663401 intron variant T/G snv 0.40 0.700 1.000 2 2007 2011
dbSNP: rs10011540
rs10011540
UCP1
1 1.000 0.080 4 140568842 5 prime UTR variant T/G snv 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1063355
rs1063355
HLA-DQB1 ; HLA-DQB1-AS1
5 0.827 0.320 6 32659937 3 prime UTR variant T/G snv 0.56 0.700 1.000 1 2018 2018