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: rs1566304640
rs1566304640
EDNRB ; EDNRB-AS1
8 0.827 0.280 13 77900593 missense variant G/A snv 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs781214034
rs781214034
EDNRB ; EDNRB-AS1
10 0.790 0.320 13 77903538 missense variant C/T snv 1.3E-04 2.8E-05 0.700 0
dbSNP: rs111033690
rs111033690
GALT
3 0.882 0.120 9 34647858 missense variant C/G;T snv 4.0E-06; 2.5E-04 0.010 1.000 1 1997 1997
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121918474
rs121918474
PROS1
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1252641479
rs1252641479
ARHGEF7
2 1.000 0.040 13 111300800 missense variant T/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1286080173
rs1286080173
ATP7B
2 0.925 0.160 13 51942551 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1366026966
rs1366026966
ATP7B
1 1.000 0.040 13 51939100 missense variant A/T snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs149989682
rs149989682
ABCA3
10 0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs200134167
rs200134167
DUOX2
1 1.000 0.040 15 45108105 missense variant C/T snv 2.5E-04 2.2E-04 0.010 1.000 1 2007 2007
dbSNP: rs35457250
rs35457250
AHSG
5 0.925 0.080 3 186620775 missense variant C/T snv 9.0E-03 8.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs376910645
rs376910645
ATP7B
2 0.925 0.160 13 51944162 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs4917
rs4917
AHSG
9 0.790 0.160 3 186619924 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2005 2005
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 1.000 1 2005 2005
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 1995 1995
dbSNP: rs70961709
rs70961709
AHSG
3 1.000 0.040 3 186620652 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs749085322
rs749085322
ATP7B
2 0.925 0.160 13 51941132 missense variant T/C snv 4.0E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs755153760
rs755153760
NUP214
1 1.000 0.040 9 131144504 missense variant G/A snv 1.6E-04 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs761234173
rs761234173
CDH13
2 1.000 0.040 16 83783345 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs762143558
rs762143558
IGSF1
1 1.000 0.040 X 131277876 missense variant G/A snv 9.3E-05 9.5E-06 0.010 1.000 1 2018 2018
dbSNP: rs769214
rs769214
CAT
2 0.925 0.160 11 34438170 upstream gene variant G/A snv 0.61 0.010 1.000 1 2011 2011
dbSNP: rs775541743
rs775541743
ATP7B
2 0.925 0.160 13 51942481 missense variant A/T snv 4.0E-06 0.010 1.000 1 2008 2008