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: rs17125721
rs17125721
PSEN1
0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2000 2000
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2000 2000
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: rs104894613
rs104894613
NOG
0.882 0.040 17 56594609 stop gained T/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
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: rs1395246796
rs1395246796
SNCAIP
0.925 0.040 5 122425421 missense variant G/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs1799983
rs1799983
NOS3
0.430 0.880 7 150999023 missense variant T/A;G snv 0.75
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs1801166
rs1801166
APC
0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs63751210
rs63751210
PSEN1
0.882 0.080 14 73186878 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs763852444
rs763852444
APP
0.882 0.120 21 26112127 missense variant G/C snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs76992529
rs76992529
TTR
0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs778581081
rs778581081
ATP2A3
0.925 17 3937577 missense variant C/T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs950592627
rs950592627
APP
0.827 0.200 21 26090015 missense variant G/C snv 7.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs964793521
rs964793521
CASP3
0.925 0.080 4 184638460 5 prime UTR variant C/T snv 1.4E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
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: rs121918118
rs121918118
GHRHR
0.882 0.120 7 30971183 missense variant T/A snv 2.4E-05 2.8E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2002 2002
dbSNP: rs1816
rs1816
KANSL1
0.882 0.200 17 46199252 intron variant A/G snv 0.14
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2002 2002
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: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003
dbSNP: rs1801334
rs1801334
PRKN
0.851 0.040 6 161360193 missense variant C/T snv 2.5E-02 2.5E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003
dbSNP: rs2066844
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003
dbSNP: rs2228262
rs2228262
THBS1 ; FSIP1
0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003