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: rs10503019
rs10503019
ATP8B1
2 0.925 0.040 18 57787145 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs11575993
rs11575993
SOD2
2 0.925 0.040 6 159688219 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs11940117
rs11940117
CLNK
2 0.925 0.040 4 10725083 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1298695421
rs1298695421
HP ; TXNL4B
2 0.925 0.040 16 72060682 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1408944
rs1408944
ZMIZ1
2 0.925 0.040 10 79248726 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1417210
rs1417210
SLC29A3
2 0.925 0.040 10 71376162 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1534284
rs1534284
PFDN5 ; C12orf10 ; LOC112268097
2 0.925 0.040 12 53299748 missense variant A/G;T snv 0.99; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs158676
rs158676
CDK5RAP1
2 0.925 0.040 20 33386589 intron variant G/A snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs2071464
rs2071464
PSMB8
2 0.925 0.040 6 32841299 intron variant G/A snv 0.43 0.010 < 0.001 1 2017 2017
dbSNP: rs2267641
rs2267641
DDR1
2 0.925 0.040 6 30897427 synonymous variant A/C snv 0.24 0.18 0.010 1.000 1 2010 2010
dbSNP: rs35677492
rs35677492
CAT
2 0.925 0.040 11 34471409 synonymous variant G/A snv 5.0E-04 2.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs4618569
rs4618569
DDR1
2 0.925 0.040 6 30887474 intron variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs59374417
rs59374417 		2 0.925 0.040 3 119569567 intergenic variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs613791
rs613791
CXCR5
2 0.925 0.040 11 118893342 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs71453838
rs71453838
PFDN5 ; C12orf10 ; LOC112268097
2 0.925 0.040 12 53299748 missense variant AA/GC mnv 0.010 1.000 1 2010 2010
dbSNP: rs760870035
rs760870035
PSMB9 ; TAP1
2 0.925 0.040 6 32854240 missense variant C/G;T snv 1.4E-05; 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs3213758
rs3213758
RPGRIP1L
3 0.925 0.040 16 53605526 missense variant C/T snv 7.3E-02 4.7E-02 0.020 1.000 2 2013 2015
dbSNP: rs10431924
rs10431924
CDH1
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs12301088
rs12301088
IFNG-AS1
3 0.882 0.080 12 68196168 intron variant C/T snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs12321603
rs12321603
MDM1 ; LOC105369818
3 0.882 0.080 12 68293070 intron variant C/T snv 4.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs13208776
rs13208776
SMOC2
3 0.882 0.040 6 168540944 intron variant G/A;C snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2039381
rs2039381
IFNE ; MIR31HG
3 0.882 0.040 9 21481484 stop gained G/A snv 4.5E-02 3.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs2273844
rs2273844
GZMB ; LOC107984667
3 0.925 0.040 14 24634208 5 prime UTR variant G/A snv 0.24 0.26 0.010 1.000 1 2015 2015
dbSNP: rs291700
rs291700
CDK5RAP1
3 0.925 0.040 20 33394043 synonymous variant T/C snv 0.64 0.62 0.010 1.000 1 2013 2013
dbSNP: rs4744411
rs4744411
AOPEP ; LOC101928119
3 0.925 0.040 9 94926763 intron variant G/A;C;T snv 0.010 1.000 1 2010 2010