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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2018 2018
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3842689
rs3842689
NR1I2
2 0.925 0.080 3 119782551 intron variant GAGAAG/-;GAGAAGGAGAAG delins 0.35 0.010 1.000 1 2016 2016
dbSNP: rs5333
rs5333
EDNRA
5 0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34 0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs747126003
rs747126003
IL6 ; IL6-AS1
18 0.689 0.400 7 22728790 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2015 2017
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.030 1.000 3 2015 2017
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 1.000 3 2015 2017
dbSNP: rs1214047676
rs1214047676
NPHS2 ; AXDND1
1 1.000 0.080 1 179551304 missense variant G/A snv 0.700 1.000 14 2000 2015
dbSNP: rs12240233
rs12240233
NPHS2
1 1.000 0.080 1 179561315 missense variant A/G snv 0.700 1.000 14 2000 2015
dbSNP: rs1345260812
rs1345260812
NPHS2
1 1.000 0.080 1 179561324 missense variant A/C snv 7.0E-06 0.700 1.000 14 2000 2015
dbSNP: rs200913299
rs200913299
NPHS2
1 1.000 0.080 1 179564779 missense variant C/T snv 3.6E-05 2.8E-05 0.700 1.000 14 2000 2015
dbSNP: rs561887984
rs561887984
NPHS2
1 1.000 0.080 1 179575780 missense variant C/T snv 2.0E-05 2.4E-04 0.700 1.000 14 2000 2015
dbSNP: rs776859868
rs776859868
NPHS2 ; AXDND1
1 1.000 0.080 1 179551360 missense variant C/A;G;T snv 4.0E-06; 1.6E-05; 2.0E-05 0.700 1.000 14 2000 2015
dbSNP: rs749740335
rs749740335
NPHS2 ; AXDND1
3 0.925 0.080 1 179552620 frameshift variant TT/- delins 6.8E-05 9.1E-05 0.700 1.000 8 2000 2011
dbSNP: rs199506378
rs199506378
NPHS2 ; AXDND1
2 0.925 0.080 1 179551435 missense variant G/A;T snv 4.0E-06 0.700 1.000 7 2002 2015
dbSNP: rs528833893
rs528833893
NPHS2
2 0.925 0.080 1 179559746 frameshift variant A/-;AA delins 0.700 1.000 7 2004 2017
dbSNP: rs775170915
rs775170915
NPHS2 ; AXDND1
2 0.925 0.080 1 179551377 frameshift variant A/- del 1.2E-05 0.700 1.000 6 2004 2013
dbSNP: rs1490010141
rs1490010141
NPHS2 ; AXDND1
2 0.925 0.080 1 179552614 missense variant C/T snv 4.0E-06 0.700 1.000 5 2002 2015
dbSNP: rs1291398331
rs1291398331
NPHS2
2 0.925 0.080 1 179557231 splice acceptor variant C/A snv 7.0E-06 0.700 1.000 3 2002 2006
dbSNP: rs12568913
rs12568913
NPHS2
2 0.925 0.080 1 179557179 stop gained G/A;C;T snv 1.2E-05; 8.0E-06 0.700 1.000 2 2001 2005
dbSNP: rs1553312833
rs1553312833
NPHS2 ; AXDND1
2 0.925 0.080 1 179552602 splice donor variant C/T snv 0.700 1.000 2 2013 2014
dbSNP: rs762631237
rs762631237
NPHS2
2 0.925 0.080 1 179564689 splice donor variant C/T snv 8.0E-06 0.700 1.000 2 2008 2015