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: rs11062385
rs11062385
KDM5A
1 1.000 0.040 12 318409 missense variant A/C;G snv 1.2E-05; 0.31 0.010 1.000 1 2011 2011
dbSNP: rs11145835
rs11145835
SNAPC4
1 1.000 0.040 9 136390000 intron variant A/G snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs11187265
rs11187265
CYP26C1
1 1.000 0.040 10 93064409 missense variant G/A snv 0.10 8.8E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs11249215
rs11249215 		1 1.000 0.040 1 24970693 non coding transcript exon variant G/A snv 0.44 0.800 1.000 1 2011 2011
dbSNP: rs1128905
rs1128905
GPSM1 ; DNLZ
1 1.000 0.040 9 136359387 3 prime UTR variant T/C snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs11428092
rs11428092
USP34
1 1.000 0.040 2 61301164 intron variant -/A delins 0.34 0.010 1.000 1 2017 2017
dbSNP: rs11547635
rs11547635
TIMP3 ; SYN3
1 1.000 0.040 22 32857305 synonymous variant C/A;T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs11578380
rs11578380 		1 1.000 0.040 1 67295682 intergenic variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1160489801
rs1160489801
IL37
1 1.000 0.040 2 112918672 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs117486637
rs117486637
HLA-B
1 1.000 0.040 6 31358156 upstream gene variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs12036228
rs12036228
FCRL5
1 1.000 0.040 1 157544301 missense variant C/T snv 0.19 0.23 0.010 1.000 1 2009 2009
dbSNP: rs12141575
rs12141575 		1 1.000 0.040 1 67281753 downstream gene variant G/A snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs1225955
rs1225955
TXNDC5 ; BLOC1S5-TXNDC5
1 1.000 0.040 6 7900476 intron variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs12609318
rs12609318
TNFSF14
1 1.000 0.040 19 6663905 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs12615545
rs12615545
LINC01934
1 1.000 0.040 2 181183725 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs12758027
rs12758027
HHAT
1 1.000 0.040 1 210621464 intron variant T/C snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs13001372
rs13001372 		1 1.000 0.040 2 62341086 TF binding site variant A/G snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs13093489
rs13093489 		1 1.000 0.040 3 27753416 intergenic variant C/A snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs13167972
rs13167972
CAST ; ERAP1
1 1.000 0.040 5 96761124 3 prime UTR variant A/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs13170045
rs13170045
ERAP1
1 1.000 0.040 5 96790082 intron variant G/T snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs13209404
rs13209404
TXNDC5 ; BLOC1S5-TXNDC5
1 1.000 0.040 6 7909734 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1383261
rs1383261 		1 1.000 0.040 6 32797674 regulatory region variant C/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs1395621
rs1395621
RUNX3 ; LOC105376878
1 1.000 0.040 1 24944081 intron variant T/C snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs14170
rs14170
USP34 ; AHSA2P
1 1.000 0.040 2 61188357 synonymous variant A/G;T snv 0.44; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs142481975
rs142481975
MMP3
1 1.000 0.040 11 102843480 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009