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: rs28933979
rs28933979
TTR
68 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 0.968 31 1984 2019
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.040 1.000 4 1990 2005
dbSNP: rs79977247
rs79977247
TTR
8 0.776 0.200 18 31592975 missense variant T/C;G snv 0.030 1.000 3 1992 2012
dbSNP: rs121918076
rs121918076
TTR
2 0.882 0.120 18 31595129 missense variant T/A;C;G snv 0.020 1.000 2 1990 2012
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.020 1.000 2 1998 2018
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2018 2020
dbSNP: rs386134269
rs386134269
TTR
2 0.882 0.120 18 31595127 missense variant A/C;G snv 0.020 1.000 2 1990 2012
dbSNP: rs104894664
rs104894664
TTR
5 0.882 0.120 18 31592959 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 1990 1990
dbSNP: rs121918074
rs121918074
TTR
4 0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04 0.010 1.000 1 1991 1991
dbSNP: rs121918080
rs121918080
TTR
6 0.827 0.240 18 31595128 missense variant G/A;T snv 2.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs121918084
rs121918084
TTR
1 0.925 0.120 18 31595191 missense variant T/C snv 0.010 1.000 1 2000 2000
dbSNP: rs121918087
rs121918087
TTR
2 0.882 0.120 18 31598581 missense variant C/G snv 0.010 1.000 1 1994 1994
dbSNP: rs121918088
rs121918088
TTR
2 0.851 0.120 18 31598631 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs121918090
rs121918090
TTR
8 0.790 0.240 18 31593026 missense variant G/C snv 0.010 1.000 1 2000 2000
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 2000 2000
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1672753
rs1672753
CRBN
4 0.882 0.240 3 3179746 upstream gene variant C/T snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs28940291
rs28940291
MFN2
5 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs61672878
rs61672878
LMNA
9 0.776 0.200 1 156136094 missense variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs699
rs699
AGT
131 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2003 2003
dbSNP: rs730881167
rs730881167
TTR
1 0.925 0.120 18 31598638 missense variant A/C snv 0.010 1.000 1 2003 2003
dbSNP: rs759304648
rs759304648
GSN
9 0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05 0.010 1.000 1 2009 2009
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: rs864622732
rs864622732
MPZ
2 0.882 0.120 1 161307386 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2006 2006