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: rs1057518923
rs1057518923
PKD1
3 0.925 0.200 16 2115395 frameshift variant -/C delins 0.700 0
dbSNP: rs112417755
rs112417755
GATA3
1 1.000 0.080 10 8073738 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs138924661
rs138924661
TRIM25 ; DGKE
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs373909351
rs373909351
IQCB1
6 0.882 0.200 3 121772659 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs398123538
rs398123538
IQCB1
6 0.882 0.200 3 121772605 frameshift variant TG/- delins 8.0E-05 7.0E-05 0.700 0
dbSNP: rs777476179
rs777476179
ALMS1
5 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0
dbSNP: rs145640112
rs145640112
KLKB1
2 0.925 0.080 4 186250267 missense variant A/C;G snv 1.8E-04; 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs4253373
rs4253373
KLKB1
2 0.925 0.080 4 186250250 missense variant C/A snv 6.7E-04 2.5E-03 0.010 < 0.001 1 2000 2000
dbSNP: rs752390951
rs752390951
KLK4
2 0.925 0.080 19 50908408 missense variant G/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs760452842
rs760452842
KLK4
2 0.925 0.080 19 50906983 missense variant T/G snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2001 2001
dbSNP: rs370819889
rs370819889
ALB
2 0.925 0.080 4 73416353 missense variant C/A;T snv 8.0E-06; 9.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.020 < 0.001 2 2002 2002
dbSNP: rs4961
rs4961
ADD1
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.020 0.500 2 2003 2003
dbSNP: rs1162592300
rs1162592300
ALB
3 0.925 0.080 4 73412045 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1516792
rs1516792
IL1A
2 0.925 0.080 2 112778356 intron variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs16347
rs16347
IL1A
2 0.925 0.080 2 112774138 3 prime UTR variant -/TGAA delins 0.70 0.010 1.000 1 2003 2003
dbSNP: rs767830104
rs767830104
CXCR4
13 0.752 0.280 2 136115399 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs867394500
rs867394500
ACE
4 0.851 0.080 17 63477301 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2004 2004
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
dbSNP: rs515299
rs515299
CFH
4 0.925 0.080 1 196737547 missense variant G/A;C;T snv 4.8E-05; 1.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2005 2005