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: rs1003346
rs1003346
TMEM245
2 1.000 9 109053060 intron variant C/A snv 0.43 0.010 1.000 1 2013 2013
dbSNP: rs10033464
rs10033464 		8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs10089084
rs10089084
IDO1
1 8 39912430 intron variant G/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1010
rs1010
VAMP8
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs10118757
rs10118757
MTAP
7 0.827 0.120 9 21853340 intron variant A/G snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs10123021
rs10123021 		1 9 100689786 regulatory region variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1035543
rs1035543
PKD1L3
2 16 71949873 missense variant G/C snv 0.39 0.33 0.700 1.000 1 2013 2013
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs10414398
rs10414398
CEACAM20
1 19 44517149 missense variant G/A snv 0.14 0.15 0.700 1.000 1 2013 2013
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs10423928
rs10423928
GIPR
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2011 2019
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2011 2011
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2002 2007
dbSNP: rs10432782
rs10432782
SOD1
7 0.807 0.160 21 31664078 intron variant T/G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs10435816
rs10435816
IL33
2 1.000 0.080 9 6225535 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1043994
rs1043994
NOTCH3
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2015 2015
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2010 2012
dbSNP: rs10478723
rs10478723
EDN1
1 6 12295228 intron variant G/A snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs1048661
rs1048661
LOXL1 ; LOXL1-AS1
14 0.732 0.320 15 73927205 missense variant G/T snv 0.33 0.28 0.010 1.000 1 2011 2011
dbSNP: rs10488682
rs10488682
TPH1
2 1.000 0.160 11 18040935 5 prime UTR variant T/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs104894845
rs104894845
GLA ; RPL36A-HNRNPH2
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.020 1.000 2 2010 2016