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: rs1800779
rs1800779
NOS3
9 0.763 0.320 7 150992855 intron variant G/A;C snv 0.020 1.000 2 2011 2014
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2014 2016
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs1005573
rs1005573
OLIG2
2 0.925 0.080 21 33026408 5 prime UTR variant C/T snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs1217401
rs1217401
AP4B1 ; AP4B1-AS1
2 0.925 0.080 1 113896329 missense variant A/G snv 0.30 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1800783
rs1800783
NOS3
7 0.827 0.280 7 150992309 intron variant A/C;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1808593
rs1808593
NOS3
3 0.925 0.080 7 151011214 intron variant G/T snv 0.77 0.010 1.000 1 2011 2011
dbSNP: rs2067853
rs2067853
AGT
5 0.851 0.160 1 230702512 downstream gene variant G/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs6517135
rs6517135
OLIG2
2 0.925 0.080 21 33025263 intron variant T/C snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs6517137
rs6517137
OLIG2 ; LOC107985505
3 0.882 0.120 21 33028471 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs9653711
rs9653711
OLIG2 ; LOC107985505
4 0.851 0.120 21 33029641 intron variant G/A;C snv 0.010 1.000 1 2019 2019