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: rs34637584
rs34637584
LRRK2
0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.100 1.000 32 2006 2019
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: 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
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: rs112176450
rs112176450
EIF4G1
0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 1.000 4 2011 2015
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: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
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: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 1.000 3 1999 2003
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: rs2981582
rs2981582
FGFR2
0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 1.000 3 2012 2016
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: rs121434569
rs121434569
EGFR ; EGFR-AS1
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2014 2014
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: rs34301344
rs34301344
ARL11
0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2006 2007
dbSNP: rs34778348
rs34778348
LRRK2 ; LOC105369736
0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2007 2007