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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2013 2017
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs13417783
rs13417783 		3 0.925 0.120 2 166773339 regulatory region variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs216008
rs216008
CACNA1C
2 1.000 0.080 12 2611971 synonymous variant C/T snv 0.21 0.21 0.010 1.000 1 2018 2018
dbSNP: rs2239050
rs2239050
CACNA1C
1 1.000 0.080 12 2338248 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2241766
rs2241766
ADIPOQ ; ADIPOQ-AS1
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2016 2016
dbSNP: rs2248069
rs2248069
CACNA1A
1 1.000 0.080 19 13334394 synonymous variant C/T snv 0.69 0.64 0.010 1.000 1 2018 2018
dbSNP: rs3774261
rs3774261
ADIPOQ ; ADIPOQ-AS1
10 0.776 0.320 3 186853770 splice region variant A/G snv 0.55 0.010 1.000 1 2015 2015
dbSNP: rs3794619
rs3794619
CACNA1H
1 1.000 0.080 16 1197482 intron variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs3821799
rs3821799
ADIPOQ ; ADIPOQ-AS1
1 1.000 0.080 3 186853697 intron variant T/C snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs391957
rs391957
HSPA5 ; LOC107987127
10 0.763 0.240 9 125241745 non coding transcript exon variant T/C snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs7191246
rs7191246
CACNA1H
1 1.000 0.080 16 1202737 intron variant G/C snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs759853
rs759853
AKR1B1
6 0.827 0.320 7 134459206 non coding transcript exon variant G/A snv 0.33 0.010 1.000 1 2017 2017