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: rs1279417718
rs1279417718
YARS1
2 1 32806493 missense variant G/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1330512770
rs1330512770
EGFR
2 7 55161592 missense variant G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs1413239
rs1413239
DPYD ; DPYD-AS1
2 1 97221459 intron variant C/T snv 0.41 0.010 1.000 1 2010 2010
dbSNP: rs141672872
rs141672872
ATXN3
2 1.000 0.080 14 92083151 missense variant C/T snv 6.8E-05 1.3E-04 0.010 1.000 1 2010 2010
dbSNP: rs1418474769
rs1418474769
GJC2
3 1.000 0.080 1 228157761 start lost G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs143473232
rs143473232
HARS1
3 1.000 5 140679789 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1474642
rs1474642
PSMB1
2 6 170543473 intron variant A/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1555937122
rs1555937122
GJB1
4 0.925 0.080 X 71223973 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2009 2009
dbSNP: rs17183814
rs17183814
SCN2A
7 0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs17748074
rs17748074
DCC
2 18 52420925 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2016 2016
dbSNP: rs2228224
rs2228224
GLI1
3 1.000 0.120 12 57471538 missense variant G/A snv 0.50 0.48 0.010 1.000 1 2010 2010
dbSNP: rs2242578
rs2242578
GLI1
2 12 57459370 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs281865128
rs281865128
MPZ
5 0.882 0.080 1 161306426 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
dbSNP: rs28937569
rs28937569
HSPB1
3 1.000 0.040 7 76304100 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs28939680
rs28939680
HSPB1
4 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs3750898
rs3750898
DCLRE1A ; LOC107984271
2 10 113850156 missense variant C/A;G snv 4.0E-06; 0.77 0.010 1.000 1 2018 2018
dbSNP: rs3811463
rs3811463
LIN28A
14 0.752 0.400 1 26427451 3 prime UTR variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs3887412
rs3887412
ABCC1
2 16 16081173 intron variant A/T snv 0.25 0.010 1.000 1 2010 2010