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: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 1994 1994
dbSNP: rs121918074
rs121918074
TTR
5 0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04 0.010 1.000 1 1994 1994
dbSNP: rs104894665
rs104894665
TTR
5 0.851 0.120 18 31593017 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121913547
rs121913547
LYZ
7 0.807 0.200 12 69350192 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121909211
rs121909211
TGFBI
15 0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2000 2000
dbSNP: rs121909612
rs121909612
FGA
6 0.807 0.160 4 154585795 missense variant T/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs121918088
rs121918088
TTR
4 0.851 0.120 18 31598631 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs1440063914
rs1440063914
KIDINS220
2 0.925 0.080 2 8779781 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs767006697
rs767006697
MEFV
2 0.925 0.080 16 3254658 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs104895219
rs104895219
TNFRSF1A
5 0.827 0.240 12 6333823 missense variant G/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.040 1.000 4 2000 2005
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs946880677
rs946880677
FAP
4 0.882 0.080 2 162224488 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1800973
rs1800973
LYZ
9 0.827 0.320 12 69350234 missense variant C/A snv 4.2E-02 4.3E-02 0.020 1.000 2 2005 2006
dbSNP: rs121918095
rs121918095
TTR
6 0.827 0.160 18 31598602 missense variant G/A snv 7.9E-04 2.2E-04 0.010 1.000 1 2006 2006
dbSNP: rs121918097
rs121918097
TTR
10 0.790 0.280 18 31595137 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1454603223
rs1454603223
LYZ
1 1.000 0.040 12 69353160 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2006 2006
dbSNP: rs745826707
rs745826707
RBM45
5 0.851 0.200 2 178112712 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs759304648
rs759304648
GSN
9 0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05 0.030 1.000 3 2002 2007
dbSNP: rs920832709
rs920832709
GSN
4 0.851 0.200 9 121321384 synonymous variant G/T snv 0.030 1.000 3 2002 2007
dbSNP: rs766474822
rs766474822
VEGFA
2 0.925 0.080 6 43770990 missense variant G/A snv 1.4E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs28933981
rs28933981
TTR
8 0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03 0.030 1.000 3 2005 2009
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.020 1.000 2 2007 2009