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: rs10857561
rs10857561
MAPK8
1 1.000 0.080 10 48400595 intron variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs11247735
rs11247735
SELENON
1 1.000 0.080 1 25804968 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11718498
rs11718498
TXNRD3
1 1.000 0.080 3 126654076 intron variant G/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1525489
rs1525489 		1 1.000 0.080 7 122993419 downstream gene variant A/G snv 3.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs17239025
rs17239025 		1 1.000 0.080 13 30765768 downstream gene variant G/C snv 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs202195689
rs202195689
SORCS2 ; MIR4274
1 1.000 0.080 4 7460097 mature miRNA variant -/C;CACCC;CCC delins 0.010 1.000 1 2018 2018
dbSNP: rs2072749
rs2072749
SELENON
1 1.000 0.080 1 25804530 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs2228545
rs2228545
BMPR2
1 1.000 0.080 2 202555989 missense variant G/A snv 2.4E-02 2.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs2705535
rs2705535
BTLA
1 1.000 0.080 3 112490080 intron variant C/T snv 8.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs4659382
rs4659382
SELENON
1 1.000 0.080 1 25808435 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs4796535
rs4796535
C17orf100 ; MIR4520-1 ; ALOX15P1
1 1.000 0.080 17 6656544 intron variant G/A snv 3.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs5743030
rs5743030
PMS1
1 1.000 0.080 2 189813819 intron variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs5743100
rs5743100
PMS1
1 1.000 0.080 2 189841127 intron variant G/T snv 9.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs718391
rs718391
SELENON
1 1.000 0.080 1 25799343 upstream gene variant C/G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs767285340
rs767285340
MSH6 ; FBXO11
1 1.000 0.080 2 47799861 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs770507184
rs770507184
ERCC2
1 1.000 0.080 19 45370161 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs956304
rs956304
SLC6A4 ; LOC105371720
1 1.000 0.080 17 30236544 upstream gene variant T/C snv 9.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs9637365
rs9637365
TXNRD3
1 1.000 0.080 3 126651323 intron variant T/C snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs10889675
rs10889675
IL23R
2 1.000 0.080 1 67256533 intron variant C/A snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs17268122
rs17268122
ABCC4
2 1.000 0.080 13 95192240 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2073438
rs2073438
ALOX12 ; ALOX12-AS1
2 0.925 0.160 17 6996757 intron variant G/A snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs2227935
rs2227935
BLM
2 0.925 0.080 15 90782869 missense variant C/A;G;T snv 4.0E-06; 5.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs2269349
rs2269349
RPSA ; SNORA62
2 0.925 0.080 3 39411566 non coding transcript exon variant C/T snv 0.49 0.010 1.000 1 2013 2013
dbSNP: rs2273626
rs2273626
HAUS4 ; MIR4707
2 0.925 0.120 14 22956973 mature miRNA variant C/A snv 0.58 0.41 0.010 1.000 1 2018 2018
dbSNP: rs4596
rs4596
GTF2H1
2 1.000 0.080 11 18366581 3 prime UTR variant G/C snv 0.41 0.010 1.000 1 2012 2012