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: rs1221699681
rs1221699681
IL1R1
1 1.000 0.160 2 102164837 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs5030858
rs5030858
PAH
4 0.882 0.160 12 102840493 missense variant G/A snv 7.6E-04 9.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1611115
rs1611115
DBH
16 0.732 0.280 9 133635393 upstream gene variant T/C snv 0.80 0.010 1.000 1 2019 2019
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2019 2019
dbSNP: rs129882
rs129882
DBH ; DBH-AS1
3 0.882 0.200 9 133658547 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs149864882
rs149864882
CP
1 1.000 0.160 3 149221753 missense variant T/C;G snv 2.8E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2015 2015
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2013 2018
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2013 2018
dbSNP: rs1243188371
rs1243188371
BDNF ; BDNF-AS
2 1.000 0.160 11 27674117 synonymous variant C/T snv 4.1E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs752600356
rs752600356
APOE
4 0.851 0.280 19 44908681 missense variant G/A;C snv 2.3E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2018 2018
dbSNP: rs7412
rs7412
APOE
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.020 1.000 2 2006 2018
dbSNP: rs60986317
rs60986317
ATP7B
1 1.000 0.160 13 51934853 missense variant G/A snv 2.0E-03 2.8E-03 0.700 0
dbSNP: rs375692175
rs375692175
ATP7B
1 1.000 0.160 13 51934859 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1555282191
rs1555282191
ATP7B
1 1.000 0.160 13 51934870 frameshift variant -/A delins 0.700 1.000 1 2011 2011
dbSNP: rs1057517191
rs1057517191
ATP7B
1 1.000 0.160 13 51934912 frameshift variant G/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1555282316
rs1555282316
ATP7B
1 1.000 0.160 13 51935003 frameshift variant -/A delins 0.700 0
dbSNP: rs181250704
rs181250704
ATP7B
1 1.000 0.160 13 51935019 missense variant G/A snv 1.1E-03 1.5E-03 0.700 1.000 23 1995 2017