Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5174
rs5174
LRP8
0.776 0.240 1 53247055 missense variant C/T snv 0.29 0.28
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 1.000 3 2009 2014
dbSNP: rs5177
rs5177
LRP8
0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2013 2014
dbSNP: rs61747728
rs61747728
NPHS2
0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2003 2008
dbSNP: rs1061170
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2007 2007
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs121908160
rs121908160
KIF1B
0.882 0.080 1 10258602 missense variant A/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2004 2004
dbSNP: rs1317187144
rs1317187144
GBA
0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs139315125
rs139315125
PER3
0.851 0.080 1 7809900 missense variant A/G snv 5.6E-03 5.0E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2016 2016
dbSNP: rs150812083
rs150812083
PER3
0.925 1 7809893 missense variant C/G snv 5.6E-03 5.0E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2006 2006
dbSNP: rs267607555
rs267607555
LMNA
0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs36053993
rs36053993
MUTYH
0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2017 2017
dbSNP: rs371792178
rs371792178
DPYD
0.925 0.040 1 97699507 missense variant G/A;C snv 3.6E-05; 1.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs3737983
rs3737983
LRP8
0.851 0.120 1 53250744 missense variant G/A;T snv 0.40; 2.4E-05; 1.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs45539432
rs45539432
PINK1 ; PINK1-AS
0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs4884357
rs4884357
TARDBP
0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs6025
rs6025
F5
0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1996 1996
dbSNP: rs627928
rs627928
RNASEL
0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2006 2006
dbSNP: rs6675281
rs6675281
DISC2 ; DISC1 ; TSNAX-DISC1 ; LOC105373170
0.827 0.080 1 231818355 missense variant C/T snv 0.11 0.14
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2012 2012
dbSNP: rs699
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1999 1999
dbSNP: rs74315355
rs74315355
PINK1 ; PINK1-AS
0.790 0.080 1 20644639 missense variant G/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 < 0.001 1 2005 2005
dbSNP: rs74315364
rs74315364
RNASEL
0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2005 2005
dbSNP: rs748343847
rs748343847
PINK1 ; MIR6084
0.827 0.080 1 20633708 missense variant G/A snv 6.9E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs80356740
rs80356740
TARDBP
1.000 1 11022556 missense variant A/G snv 1.7E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2008 2008
dbSNP: rs5742904
rs5742904
APOB
0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.060 1.000 6 1994 2012