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: rs4795397
rs4795397
ZPBP2
4 0.925 0.160 17 39867492 upstream gene variant A/G snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs259964
rs259964
ZNF831
6 0.827 0.120 20 59249254 intron variant A/G;T snv 0.800 1.000 3 2012 2017
dbSNP: rs17800987
rs17800987
ZNF300P1
1 5 150943866 non coding transcript exon variant A/G snv 0.14 0.13 0.700 1.000 1 2015 2015
dbSNP: rs11741861
rs11741861
ZNF300 ; IRGM
3 0.925 0.040 5 150898347 intron variant A/G snv 8.8E-02 0.800 1.000 2 2012 2017
dbSNP: rs1250550
rs1250550
ZMIZ1
5 0.851 0.240 10 79300560 intron variant C/A snv 0.27 0.810 1.000 2 2009 2017
dbSNP: rs1250546
rs1250546
ZMIZ1
3 0.925 0.080 10 79272775 intron variant A/G snv 0.36 0.800 1.000 1 2012 2012
dbSNP: rs1250566
rs1250566
ZMIZ1
1 10 79286696 intron variant G/A snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs1250569
rs1250569
ZMIZ1
3 0.925 0.040 10 79285450 intron variant T/C snv 0.44 0.51 0.010 1.000 1 2017 2017
dbSNP: rs2315008
rs2315008
ZGPAT
4 0.925 0.120 20 63712604 intron variant T/G snv 0.70 0.800 1.000 1 2008 2008
dbSNP: rs6062504
rs6062504
ZGPAT
3 0.925 0.040 20 63717555 intron variant A/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs35873774
rs35873774
XBP1
3 0.925 0.040 22 28795944 intron variant A/G snv 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.020 1.000 2 2011 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2011 2011
dbSNP: rs2266959
rs2266959
UBE2L3
9 0.776 0.200 22 21568615 intron variant G/T snv 0.18 0.800 1.000 2 2012 2017
dbSNP: rs2266961
rs2266961
UBE2L3
7 0.807 0.160 22 21574308 intron variant C/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs9557207
rs9557207
UBAC2
2 13 99384164 intron variant A/G snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs34536443
rs34536443
TYK2
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs35018800
rs35018800
TYK2
9 0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs62037363
rs62037363
TUFM ; SH2B1
2 16 28853721 intron variant T/C snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs1292053
rs1292053
TUBD1
2 1.000 0.040 17 59886176 missense variant A/G snv 0.45 0.46 0.800 1.000 2 2012 2015
dbSNP: rs6586030
rs6586030
TSPAN14
2 1.000 0.040 10 80494291 intron variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs7097656
rs7097656
TSPAN14
6 0.827 0.120 10 80491075 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs9471535
rs9471535
TREM1
5 0.851 0.240 6 41287752 upstream gene variant T/C snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs2179070
rs2179070
TRAF3IP2 ; TRAF3IP2-AS1
1 6 111564549 intron variant T/C;G snv 0.700 1.000 1 2015 2015