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: rs2327089
rs2327089
PLCB1
1 1.000 0.080 20 8788533 splice region variant C/T snv 0.95 0.90 0.700 1.000 1 2012 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2006 2017
dbSNP: rs683369
rs683369
SLC22A1
7 0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 0.020 1.000 2 2014 2015
dbSNP: rs805722
rs805722
COL17A1
1 1.000 0.080 10 104050642 missense variant T/A;C snv 8.0E-06; 0.78 0.700 1.000 1 2012 2012
dbSNP: rs2287618
rs2287618
ABCB11
1 1.000 0.080 2 168986299 intron variant T/C snv 0.69 0.73 0.010 1.000 1 2014 2014
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs2866413
rs2866413
MANBA
1 1.000 0.080 4 102635920 missense variant G/A;C snv 0.54; 2.4E-05 0.700 1.000 2 2011 2012
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 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2005 2005
dbSNP: rs2303937
rs2303937
SLC4A2
1 1.000 0.080 7 151071699 synonymous variant G/A;C snv 0.48; 8.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs11557467
rs11557467
ZPBP2
5 0.851 0.200 17 39872381 missense variant G/T snv 0.45 0.45 0.700 1.000 2 2012 2012
dbSNP: rs2305479
rs2305479
GSDMB
4 0.882 0.160 17 39905964 missense variant C/T snv 0.43 0.39 0.700 1.000 2 2012 2012
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.050 1.000 5 2011 2017
dbSNP: rs10852935
rs10852935
ZPBP2
1 1.000 0.080 17 39875421 synonymous variant C/T snv 0.40 0.35 0.700 1.000 1 2012 2012
dbSNP: rs11557466
rs11557466
ZPBP2
3 0.925 0.160 17 39868373 synonymous variant C/T snv 0.40 0.36 0.700 1.000 1 2012 2012
dbSNP: rs11078928
rs11078928
GSDMB
2 0.925 0.160 17 39908216 splice acceptor variant T/A;C snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs2305480
rs2305480
GSDMB
10 0.763 0.280 17 39905943 missense variant G/A snv 0.40 0.35 0.700 1.000 2 2012 2012
dbSNP: rs10852936
rs10852936
ZPBP2
3 0.925 0.120 17 39875461 intron variant C/T snv 0.39 0.40 0.700 1.000 1 2012 2012
dbSNP: rs767455
rs767455
TNFRSF1A
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.700 1.000 1 2012 2012
dbSNP: rs1800693
rs1800693
TNFRSF1A
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.800 1.000 3 2011 2015
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2014 2014
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2013 2013
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2014 2014
dbSNP: rs2304256
rs2304256
TYK2
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.800 1.000 2 2012 2015
dbSNP: rs2076125
rs2076125
RPL3 ; SNORD83A ; SNORD83B
1 1.000 0.080 22 39315346 intron variant A/G snv 0.27 0.19 0.700 1.000 1 2011 2011