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: rs28942074
rs28942074
ATP7B
4 0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 0.900 0.984 64 1995 2020
dbSNP: rs76151636
rs76151636
ATP7B
10 0.776 0.280 13 51944145 missense variant G/A;T snv 4.0E-06; 9.2E-04 0.900 1.000 56 1993 2019
dbSNP: rs28942076
rs28942076
ATP7B
1 1.000 0.160 13 51949700 missense variant C/A;T snv 8.0E-06 7.0E-06 0.800 1.000 40 1995 2019
dbSNP: rs768671894
rs768671894
ATP7B
1 1.000 0.160 13 51950328 missense variant G/A snv 7.0E-06 0.800 1.000 32 1995 2019
dbSNP: rs1555291285
rs1555291285
ATP7B
1 1.000 0.160 13 51958537 missense variant C/G snv 0.810 1.000 25 1995 2019
dbSNP: rs191312027
rs191312027
ATP7B
1 1.000 0.160 13 51950132 stop gained C/A;T snv 4.0E-06; 6.9E-04 0.800 1.000 12 1997 2019
dbSNP: rs732774
rs732774
ATP7B
5 0.827 0.320 13 51949672 missense variant C/T snv 0.57 0.56 0.030 1.000 3 2012 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: 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: 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: 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: rs121907990
rs121907990
ATP7B
2 0.925 0.240 13 51937570 missense variant T/A;C snv 4.0E-06; 2.2E-04 0.820 1.000 40 1993 2018
dbSNP: rs749363958
rs749363958
ATP7B ; ALG11
1 1.000 0.160 13 52011318 frameshift variant GT/- delins 1.5E-04 0.700 1.000 5 2006 2018
dbSNP: rs1331370011
rs1331370011
ATP7B
1 1.000 0.160 13 51944267 frameshift variant TCT/C;T delins 0.700 1.000 4 1995 2018
dbSNP: rs1021025464
rs1021025464
ATP7B ; ALG11
1 1.000 0.160 13 52012013 splice region variant T/C snv 9.1E-05 0.700 1.000 3 2014 2018
dbSNP: rs1566598496
rs1566598496
ATP7B
1 1.000 0.160 13 51974412 splice donor variant CTTACAA/- delins 0.700 1.000 2 1999 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: 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: 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: rs61754375
rs61754375
TYR ; LOC107984363
3 0.882 0.240 11 89191278 missense variant G/A snv 6.8E-05 6.3E-05 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: 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: rs137853284
rs137853284
ATP7B
1 1.000 0.160 13 51958334 missense variant G/A;C snv 5.2E-05; 8.0E-06 0.800 1.000 48 1995 2017