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: 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: rs11247735
rs11247735
SELENON
1 1.000 0.080 1 25804968 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs11536898
rs11536898
TLR4
3 0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14 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: rs17026425
rs17026425
IQCM
4 0.882 0.080 4 149751362 intron variant G/A snv 4.9E-02 0.700 1.000 1 2015 2015
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: 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: 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: rs2189517
rs2189517
RAD51B
3 0.882 0.080 14 68536271 intron variant A/G snv 0.49 0.010 1.000 1 2020 2020
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: 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: 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: rs2632159
rs2632159
PCAT1 ; LOC105375751
3 0.882 0.080 8 127021159 intron variant G/A;T snv 0.010 1.000 1 2019 2019
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: rs2853668
rs2853668 		5 0.882 0.080 5 1299910 upstream gene variant G/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs3775292
rs3775292
TLR3
5 0.851 0.080 4 186081871 non coding transcript exon variant C/G snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs3804513
rs3804513
IL17A
4 0.851 0.080 6 52188399 intron variant A/T snv 2.4E-02 0.010 1.000 1 2019 2019
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
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