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: rs1424665740
rs1424665740
SLC10A2
2 0.925 0.040 13 103066068 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs6478317
rs6478317 		3 0.882 0.120 9 117701903 upstream gene variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2011 2011
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 2018 2018
dbSNP: rs7091672
rs7091672 		2 0.925 0.040 10 118836909 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1326123837
rs1326123837
SLC37A4 ; TRAPPC4
2 0.925 0.040 11 119025310 missense variant C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs782692832
rs782692832
SLC37A4
2 0.925 0.040 11 119026688 missense variant C/T snv 4.6E-06 0.010 1.000 1 2020 2020
dbSNP: rs193302889
rs193302889
SLC37A4
3 0.882 0.120 11 119029289 missense variant A/T snv 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1801019
rs1801019
UMPS
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.010 1.000 1 2006 2006
dbSNP: rs2032592
rs2032592
DDX3Y
5 0.851 0.160 Y 12919473 3 prime UTR variant A/G snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs1460631883
rs1460631883
MTG1
3 0.882 0.120 10 133420041 missense variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1901440
rs1901440 		2 0.925 0.040 2 133680388 intergenic variant C/A snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs104893624
rs104893624
CXCR4 ; LOC112268426
4 0.851 0.200 2 136114928 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1422359334
rs1422359334
GSTK1 ; LOC105375545
2 0.925 0.040 7 143264131 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs879255237
rs879255237
VPS45
7 0.807 0.160 1 150077763 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.030 1.000 3 2008 2019
dbSNP: rs6498588
rs6498588
LOC107984869
2 0.925 0.040 16 15938949 intergenic variant A/T snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs17501331
rs17501331
ABCC1
2 0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs72552763
rs72552763
SLC22A1
3 0.925 0.040 6 160139849 inframe deletion GAT/- delins 0.15 0.010 1.000 1 2017 2017
dbSNP: rs2074087
rs2074087
ABCC1
3 0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83 0.010 1.000 1 2013 2013
dbSNP: rs1260186456
rs1260186456
ABCC1
2 0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs546229463
rs546229463
FCGR3B
2 0.925 0.040 1 161629912 missense variant T/C snv 0.010 1.000 1 2018 2018