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: rs1440063914
rs1440063914
KIDINS220
2 0.925 0.080 2 8779781 missense variant T/C snv 0.020 1.000 2 2001 2004
dbSNP: rs79071878
rs79071878
IL4 ; LOC105379176
7 0.827 0.240 5 132680652 intron variant ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- del 0.020 < 0.001 2 2016 2018
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: 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: 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: 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: rs28940579
rs28940579
MEFV
10 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.900 1.000 11 1997 2019
dbSNP: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.020 1.000 2 2008 2010
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: rs4986790
rs4986790
TLR4
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2009 2011
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: 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: 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: rs28940580
rs28940580
MEFV
16 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.890 1.000 9 1997 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: 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: rs11466024
rs11466024
MEFV
2 0.925 0.080 16 3249468 missense variant C/A;T snv 1.6E-05; 1.3E-02 0.840 1.000 4 1999 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: rs11466023
rs11466023
MEFV
6 0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05 0.860 1.000 6 2008 2017
dbSNP: rs28940578
rs28940578
MEFV
14 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.900 1.000 14 1997 2017