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: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1569484120
rs1569484120
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6887 inframe insertion -/GGG delins 0.700 0
dbSNP: rs1569484301
rs1569484301
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9441 inframe insertion -/TTT delins 0.700 0
dbSNP: rs1569484288
rs1569484288
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9273 protein altering variant -/ATC ins 0.700 0
dbSNP: rs1569484299
rs1569484299
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9429 protein altering variant -/CCC ins 0.700 0
dbSNP: rs1554034812
rs1554034812
NIPBL
3 0.925 0.240 5 37058938 frameshift variant G/- delins 0.700 0
dbSNP: rs1556165162
rs1556165162
HDAC8
7 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
dbSNP: rs1569484042
rs1569484042
COX1 ; COX2 ; ND2
1 1.000 0.080 MT 5954 frameshift variant A/- del 0.700 0
dbSNP: rs1569484122
rs1569484122
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6900 frameshift variant A/- delins 0.700 0
dbSNP: rs1569484124
rs1569484124
ATP6 ; ATP8 ; COX1 ; COX2
2 0.925 0.080 MT 6925 frameshift variant C/- delins 0.700 0
dbSNP: rs1569484126
rs1569484126
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6939 frameshift variant T/- delins 0.700 0
dbSNP: rs1569484164
rs1569484164
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7638 frameshift variant A/- delins 0.700 0
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2015 2018
dbSNP: rs10080
rs10080
NRP1
1 1.000 0.080 10 33178180 3 prime UTR variant G/A snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs1114167357
rs1114167357
TPM1
1 1.000 0.080 15 63042945 splice donor variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs181317402
rs181317402
GDF1 ; CERS1
3 0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs16939660
rs16939660
ALDH1A2
2 0.925 0.120 15 58010689 synonymous variant T/C snv 8.4E-03 1.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs2277923
rs2277923
NKX2-5
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2018 2018
dbSNP: rs56085230
rs56085230
ROCK1
1 1.000 0.080 18 21042578 synonymous variant G/A snv 6.7E-03 6.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs139365823
rs139365823
MIR138-2
2 0.925 0.080 16 56858519 non coding transcript exon variant G/A;C;T snv 4.1E-06; 2.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs4841587
rs4841587
GATA4
3 1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs4841588
rs4841588
GATA4
3 1.000 0.080 8 11756716 non coding transcript exon variant G/T snv 0.19 0.010 1.000 1 2015 2015