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: rs1555937122
rs1555937122
GJB1
4 0.925 0.080 X 71223973 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs397515323
rs397515323
PDK3
7 0.851 0.080 X 24503479 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263
PRPS1
5 0.925 0.240 X 107650000 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2016 2016
dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
4 0.925 0.120 22 50527165 inframe deletion AGC/- delins 0.700 0
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
4 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
dbSNP: rs492338
rs492338
ABCG1
2 21 42281867 intron variant A/G snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs755919784
rs755919784
SPTLC3
2 1.000 0.080 20 13072400 missense variant T/C snv 2.6E-05 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs80356711
rs80356711
PRNP
4 1.000 20 4699698 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs113993956
rs113993956
MYH14
3 1.000 19 50268255 missense variant G/A;T snv 6.2E-04 0.010 1.000 1 2019 2019
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.020 1.000 2 2012 2015
dbSNP: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121918068
rs121918068
TTR
6 0.882 0.200 18 31592983 missense variant T/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs17748074
rs17748074
DCC
2 18 52420925 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
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: rs104894619
rs104894619
PMP22
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.010 1.000 1 2003 2003
dbSNP: rs3887412
rs3887412
ABCC1
2 16 16081173 intron variant A/T snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs8060632
rs8060632
CDH13
2 16 83591958 intron variant A/C snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs72653786
rs72653786
ABCC6
9 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0