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: rs104893877
rs104893877
SNCA
0.614 0.360 4 89828149 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 1.000 13 2000 2018
dbSNP: rs28933979
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 1.000 10 1985 2018
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.732 0.160 4 89835580 missense variant C/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.080 1.000 8 2000 2019
dbSNP: rs121912438
rs121912438
SOD1
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 1.000 5 2003 2019
dbSNP: rs35705950
rs35705950 		0.763 0.240 11 1219991 splice region variant G/A;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 1.000 5 2011 2016
dbSNP: rs1463038513
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 1.000 4 1998 2002
dbSNP: rs188286943
rs188286943
VPS35
0.776 0.160 16 46662452 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 1.000 4 2011 2015
dbSNP: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 1.000 3 2006 2019
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 1.000 3 2003 2018
dbSNP: rs121912431
rs121912431
SOD1
0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2000 2001
dbSNP: rs1219648
rs1219648
FGFR2
0.716 0.320 10 121586676 intron variant A/G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2013 2016
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
0.732 0.240 16 1792325 missense variant T/C;G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2012 2016
dbSNP: rs28933385
rs28933385
PRNP
0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2009 2020
dbSNP: rs28939688
rs28939688
OPTN
0.807 0.040 10 13109270 missense variant G/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2003 2013
dbSNP: rs33939927
rs33939927
LRRK2
0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2007 2008
dbSNP: rs371425292
rs371425292
APP
0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2001 2017
dbSNP: rs3803185
rs3803185
ARL11
0.708 0.320 13 49630889 missense variant T/C;G snv 0.39
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2006 2007
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: rs572842823
rs572842823
APP
0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2001 2017
dbSNP: rs63750264
rs63750264
APP
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 1993 2005
dbSNP: rs755100942
rs755100942
ARL11
0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2006 2007
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 < 0.001 2 2014 2016
dbSNP: rs763222239
rs763222239
EIF4G1
0.827 0.040 3 184322862 missense variant G/A snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2013 2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2006 2006
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 0.500 2 2013 2013