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: rs1555631390
rs1555631390
TTR
4 0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins 0.700 1.000 1 2018 2018
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs28936375
rs28936375
CPT2
15 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
dbSNP: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs753635972
rs753635972
MTHFS ; ST20-MTHFS
15 0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs771379232
rs771379232
MTHFS ; ST20-MTHFS
15 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
8 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2008 2014
dbSNP: rs104893856
rs104893856
PHOX2B
6 0.827 0.080 4 41746162 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121909717
rs121909717
GFAP
3 0.925 0.120 17 44908075 missense variant G/A;C;T snv 1.2E-04 0.010 1.000 1 2003 2003
dbSNP: rs146486358
rs146486358
CUX1
3 0.882 0.080 7 102205168 missense variant C/T snv 8.6E-04 3.0E-04 0.010 1.000 1 2015 2015
dbSNP: rs2072446
rs2072446
NGFR ; LOC100288866 ; MIR6165
11 0.776 0.160 17 49510457 missense variant C/T snv 5.2E-02 4.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs73969684
rs73969684
SCN9A ; SCN1A-AS1
2 1.000 0.040 2 166305834 missense variant C/G;T snv 1.2E-05; 2.8E-03 0.010 1.000 1 2012 2012
dbSNP: rs74315431
rs74315431
VAPB
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs758440592
rs758440592
AAAS
4 0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2019 2019