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: 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: 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: rs61747728
rs61747728
NPHS2
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.810 1.000 20 2000 2015
dbSNP: rs74315342
rs74315342
NPHS2
10 0.763 0.120 1 179561327 missense variant C/T snv 6.0E-04 5.3E-04 0.800 1.000 24 2000 2018
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: rs200482683
rs200482683
NPHS2 ; AXDND1
6 0.827 0.120 1 179552608 missense variant C/T snv 1.1E-04 1.1E-04 0.800 1.000 9 2002 2014
dbSNP: rs775006954
rs775006954
NPHS2 ; AXDND1
2 0.925 0.080 1 179554491 missense variant A/T snv 1.6E-05 1.0E-04 0.800 1.000 18 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: rs780761368
rs780761368
NPHS2 ; AXDND1
1 1.000 0.080 1 179552625 missense variant G/A snv 4.0E-06 3.5E-05 0.800 1.000 16 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: rs1340195940
rs1340195940
NPHS2
1 1.000 0.080 1 179575782 missense variant T/A snv 2.8E-05 0.700 0
dbSNP: rs748812981
rs748812981
NPHS2
4 0.851 0.080 1 179557051 missense variant C/A snv 8.0E-06; 4.0E-06 2.8E-05 0.800 1.000 9 2004 2015
dbSNP: rs200587413
rs200587413
NPHS2
1 1.000 0.080 1 179557143 missense variant C/T snv 5.2E-05 2.1E-05 0.700 0
dbSNP: rs1272948499
rs1272948499
NPHS2
3 0.925 0.080 1 179575709 frameshift variant C/- delins 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs967339926
rs967339926
NPHS2 ; AXDND1
2 0.925 0.080 1 179552601 splice donor variant A/T snv 1.4E-05 0.700 1.000 2 2015 2016
dbSNP: rs74315343
rs74315343
NPHS2
5 0.851 0.080 1 179561328 stop gained G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs1462028977
rs1462028977
NPHS2
4 0.851 0.080 1 179575654 stop gained G/A snv 4.3E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs74315347
rs74315347
NPHS2
2 0.925 0.080 1 179557227 missense variant C/T snv 1.2E-05 7.0E-06 0.800 1.000 20 2000 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: rs1057516747
rs1057516747
NPHS2
2 0.925 0.080 1 179575722 frameshift variant -/AGCCC delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs866921812
rs866921812
NPHS2 ; AXDND1
1 1.000 0.080 1 179551327 missense variant T/C snv 7.0E-06 0.700 0
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: 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