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: rs1043997
rs1043997
NOTCH3
1 1.000 0.120 19 15181626 synonymous variant T/C snv 0.80 0.77 0.010 < 0.001 1 2015 2015
dbSNP: rs11712619
rs11712619
KALRN
5 0.882 0.160 3 124300955 intron variant C/A;T snv 0.26 0.010 1.000 1 2015 2015
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 2016 2016
dbSNP: rs17809012
rs17809012
CCL11
4 0.925 0.160 17 34285425 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2000 2000
dbSNP: rs1860184
rs1860184
CCL11
1 1.000 0.120 17 34286113 intron variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3803230
rs3803230
COL4A2
1 1.000 0.120 13 110467049 missense variant G/C snv 0.11 0.10 0.010 1.000 1 2019 2019
dbSNP: rs4103
rs4103
COL4A2
1 1.000 0.120 13 110445879 synonymous variant C/T snv 0.51 0.49 0.010 1.000 1 2019 2019
dbSNP: rs4795895
rs4795895
CCL11
2 1.000 0.120 17 34284427 upstream gene variant A/G snv 0.86 0.010 1.000 1 2017 2017
dbSNP: rs6438833
rs6438833
KALRN
1 1.000 0.120 3 124206748 intron variant T/A snv 6.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs76425569
rs76425569
COL4A2
2 1.000 0.120 13 110449695 synonymous variant G/A snv 0.31 0.28 0.010 1.000 1 2019 2019