Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.040 0.500 4 1999 2009
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
0.752 0.280 10 88941309 missense variant C/T snv
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.020 1.000 2 2013 2014
dbSNP: rs10811661
rs10811661 		0.724 0.400 9 22134095 intergenic variant T/C snv 0.14
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 < 0.001 1 2008 2008
dbSNP: rs11053646
rs11053646
OLR1
0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2017 2017
dbSNP: rs14035
rs14035
RAN
0.742 0.320 12 130876696 3 prime UTR variant C/T snv 0.33
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2018 2018
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2004 2004
dbSNP: rs1800976
rs1800976
ABCA1 ; LOC105376196
1.000 0.080 9 104928428 intron variant C/G snv 0.47
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2020 2020
dbSNP: rs2422493
rs2422493
ABCA1 ; LOC105376196
1.000 0.080 9 104928714 intron variant G/A snv 0.48
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2020 2020
dbSNP: rs2762939
rs2762939
CYP24A1
0.925 0.160 20 54164712 intron variant G/C;T snv
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2010 2010
dbSNP: rs28935490
rs28935490
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2013 2013
dbSNP: rs3819025
rs3819025
IL17A
0.752 0.480 6 52186476 intron variant G/A snv 0.13 8.5E-02
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2017 2017
dbSNP: rs5361
rs5361
SELE ; C1orf112
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2004 2004
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2019 2019
dbSNP: rs886039303
rs886039303
ACTA2 ; STAMBPL1
0.882 0.160 10 88941310 missense variant G/A snv
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		0.010 1.000 1 2017 2017