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 0.060 1.000 6 2005 2014
dbSNP: rs12137855
rs12137855
LYPLAL1
3 0.882 0.040 1 219275036 downstream gene variant C/T snv 0.19 0.020 1.000 2 2013 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2013 2014
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2013 2013
dbSNP: rs11591147
rs11591147
PCSK9
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs12743824
rs12743824 		2 0.925 0.040 1 99317401 intergenic variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs3480
rs3480
FNDC5
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs772114791
rs772114791
PCSK9
1 1.000 0.040 1 55052343 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs797044485
rs797044485
LMNA
4 0.851 0.160 1 156134832 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.040 1.000 4 2012 2018
dbSNP: rs780094
rs780094
GCKR
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.030 1.000 3 2013 2018
dbSNP: rs1553403917
rs1553403917
ALMS1
7 0.807 0.320 2 73451171 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs17007417
rs17007417 		3 0.882 0.080 2 71808541 regulatory region variant T/C snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
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 2014 2014
dbSNP: rs951599607
rs951599607
PPARG
4 0.925 0.040 3 12434028 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1057972
rs1057972
IL15
7 0.790 0.200 4 141733279 3 prime UTR variant A/T snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs10833
rs10833
IL15
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2018 2018
dbSNP: rs2290602
rs2290602
PPARGC1A
3 0.882 0.040 4 23824109 intron variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2018 2018
dbSNP: rs6834314
rs6834314 		10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2018 2018
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2016 2016