Source: BEFREE ×
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: rs104895081
rs104895081
MEFV
2 0.925 0.080 16 3254268 missense variant G/A snv 1.6E-04 1.1E-04 0.810 1.000 1 2010 2015
dbSNP: rs104895094
rs104895094
MEFV
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.810 1.000 1 1998 2016
dbSNP: rs104895076
rs104895076
MEFV
1 1.000 0.040 16 3254625 missense variant T/A;G snv 7.7E-05; 4.3E-06 0.710 1.000 1 2017 2017
dbSNP: rs104895105
rs104895105
MEFV
6 0.851 0.120 16 3247171 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs104895193
rs104895193
MEFV
1 1.000 0.040 16 3244284 missense variant T/A snv 0.010 1.000 1 2014 2014
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1274043842
rs1274043842
MEFV
1 1.000 0.040 16 3248950 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs141829974
rs141829974
C5
1 1.000 0.040 9 121037923 synonymous variant G/A snv 2.6E-04 8.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs190405488
rs190405488
MEFV
1 1.000 0.040 16 3249609 missense variant C/G snv 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs2234663
rs2234663
IL1RN
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 < 0.001 1 2016 2016
dbSNP: rs368859219
rs368859219
TNFAIP3
1 1.000 0.040 6 137881228 missense variant G/A;T snv 7.4E-05; 8.2E-06 0.010 1.000 1 2020 2020
dbSNP: rs4804049
rs4804049
C5AR1
1 1.000 0.040 19 47320227 synonymous variant T/A;C snv 4.0E-06; 0.99 0.010 1.000 1 2010 2010
dbSNP: rs662
rs662
PON1
153 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2014 2014
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 2016 2016
dbSNP: rs75977701
rs75977701
MEFV
1 1.000 0.040 16 3254158 missense variant C/T snv 4.6E-03 3.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs763110
rs763110
FASLG
29 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs767006697
rs767006697
MEFV
2 0.925 0.080 16 3254658 frameshift variant C/- delins 0.010 < 0.001 1 2001 2001
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 2016 2016
dbSNP: rs995922697
rs995922697
GPX1
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs61732874
rs61732874
MEFV
1 0.925 0.040 16 3243257 missense variant C/A;T snv 1.8E-03; 1.2E-05 0.820 1.000 2 1998 2018
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2011 2014
dbSNP: rs1440063914
rs1440063914
KIDINS220
2 0.925 0.080 2 8779781 missense variant T/C snv 0.020 1.000 2 2001 2004