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: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.030 0.667 3 2015 2018
dbSNP: rs1432422306
rs1432422306
FGA
3 0.925 0.120 4 154586432 frameshift variant TTCCAGT/- del 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs879254538
rs879254538
LDLR
5 0.851 0.200 19 11105378 frameshift variant T/- del 0.700 0
dbSNP: rs879254712
rs879254712
LDLR
6 0.827 0.200 19 11107470 frameshift variant C/- del 0.700 0
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.020 1.000 2 2010 2016
dbSNP: rs1396616608
rs1396616608
YY1AP1
1 1.000 0.080 1 155660237 frameshift variant G/- delins 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs145204276
rs145204276
GAS5 ; ZBTB37 ; SNORD74 ; SNORD75 ; SNORD76 ; SNORD77 ; SNORA103
31 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs34234989
rs34234989
PROCR ; MMP24-AS1-EDEM2
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2017 2017
dbSNP: rs906600204
rs906600204
LLGL2
1 1.000 0.080 17 75569087 frameshift variant -/ACTT delins 0.010 1.000 1 2009 2009
dbSNP: rs121908027
rs121908027
LDLR
5 0.882 0.160 19 11105557 inframe deletion TGG/- delins 0.700 0
dbSNP: rs1555808111
rs1555808111
LDLR
3 0.925 0.160 19 11123284 frameshift variant -/GCTG delins 0.700 0
dbSNP: rs875989898
rs875989898
LDLR
5 0.851 0.200 19 11105220 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs879254885
rs879254885
LDLR ; MIR6886
4 0.882 0.160 19 11113552 frameshift variant CCAC/- delins 0.700 0
dbSNP: rs879254933
rs879254933
LDLR ; MIR6886
4 0.882 0.160 19 11113708 frameshift variant -/A delins 0.700 0
dbSNP: rs879255130
rs879255130
LDLR
5 0.882 0.160 19 11120446 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.923 52 1999 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 1.000 20 2005 2019
dbSNP: rs12425791
rs12425791 		4 0.882 0.120 12 674318 downstream gene variant G/A;C snv 0.100 0.857 14 2009 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.100 0.929 14 2000 2019
dbSNP: rs11833579
rs11833579 		6 0.827 0.200 12 666033 upstream gene variant G/A snv 0.25 0.100 0.846 13 2011 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.909 11 2006 2018
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.090 0.778 9 2001 2013
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.080 0.875 8 2010 2020
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.080 0.875 8 2014 2019