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: rs1732778
rs1732778 		5 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs2808635
rs2808635 		1 1 159724419 intergenic variant G/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs876538
rs876538 		2 1 159705927 upstream gene variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs11568658
rs11568658
ABCC4 ; SNORD13G
3 0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs11575933
rs11575933
ADAMTS13
3 0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs1554785242
rs1554785242
ADAMTS13
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
ADAMTS13
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
9 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
dbSNP: rs5743507
rs5743507
BPI
2 1.000 20 38310650 splice region variant G/C snv 9.4E-02 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs2227288
rs2227288
CD320
2 1.000 0.040 19 8302641 intron variant G/C;T snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2229291
rs2229291
CPT2
8 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.020 1.000 2 2014 2014
dbSNP: rs1567608853
rs1567608853
CYBA
6 0.925 0.160 16 88646212 non coding transcript exon variant G/C snv 0.700 0
dbSNP: rs12939622
rs12939622
DDX52
2 1.000 0.040 17 37611503 3 prime UTR variant G/A snv 0.42 0.010 1.000 1 2020 2020
dbSNP: rs1187636039
rs1187636039
EPHA3
5 0.925 0.120 3 89341043 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs755789256
rs755789256
EXOC1
1 4 55868434 missense variant G/A snv 2.8E-05 1.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs3832879
rs3832879
FGF23
2 12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 0.010 1.000 1 2013 2013
dbSNP: rs7849782
rs7849782
GRIN3A
3 0.925 0.160 9 101664982 intron variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs62641689
rs62641689
HCN4
2 15 73323818 missense variant C/A;T snv 3.2E-03 0.700 0
dbSNP: rs41550816
rs41550816
HLA-B ; HLA-C
1 6 31271178 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1057518886
rs1057518886
HMBS
5 11 119090043 frameshift variant C/- delins 0.700 0
dbSNP: rs2227956
rs2227956
HSPA1L
12 0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 0.010 1.000 1 2014 2014
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2017 2017