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: rs121918091
rs121918091
TTR
3 0.882 0.200 18 31595169 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs121918088
rs121918088
TTR
4 0.851 0.120 18 31598631 missense variant T/C snv 0.700 1.000 1 1994 1994
dbSNP: rs958191819
rs958191819
TTR
6 0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs267607247
rs267607247
MPZ
3 0.882 0.120 1 161305953 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1043307
rs1043307
PSMD9
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1126499
rs1126499
BGN
1 1.000 0.080 X 153506051 missense variant C/A;T snv 0.43 0.37 0.010 1.000 1 2014 2014
dbSNP: rs1516797
rs1516797
ACAN
1 1.000 0.080 15 88867083 intron variant T/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2014 2014
dbSNP: rs12722
rs12722
COL5A1 ; LOC101448202
6 0.882 0.120 9 134842570 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs1305315912
rs1305315912
VEGFA
2 1.000 0.080 6 43770736 synonymous variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs13946
rs13946
COL5A1 ; LOC101448202
1 1.000 0.080 9 134842386 3 prime UTR variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs55748801
rs55748801
COL5A1 ; LOC101448202
1 1.000 0.080 9 134842493 3 prime UTR variant G/A snv 5.5E-03 0.010 1.000 1 2015 2015
dbSNP: rs71746744
rs71746744
COL5A1 ; LOC101448202
1 1.000 0.080 9 134843171 3 prime UTR variant -/GGGA delins 0.010 1.000 1 2015 2015
dbSNP: rs74421874
rs74421874
PSMD9
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs121918082
rs121918082
TTR
6 0.827 0.280 18 31595244 missense variant G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1335856860
rs1335856860
FAP
2 0.925 0.120 2 162183437 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs486055
rs486055
MMP10 ; WTAPP1
3 0.925 0.120 11 102779693 missense variant C/G;T snv 1.2E-05; 0.10 0.010 1.000 1 2016 2016
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.010 1.000 1 2016 2016
dbSNP: rs933476040
rs933476040
TTR
2 0.925 0.120 18 31595130 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs970547
rs970547
COL12A1
1 1.000 0.080 6 75087586 missense variant C/T snv 0.75 0.73 0.010 1.000 1 2016 2016
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.730 0.667 3 2009 2017