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: 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: rs7229639
rs7229639
SMAD7
0.763 0.080 18 48924606 intron variant A/G snv 0.87
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs641081
rs641081
AIP ; MIR6752
0.851 0.120 11 67490352 missense variant C/A snv 0.96 0.84
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2015 2015
dbSNP: rs2292813
rs2292813
SLC25A12
0.882 0.040 2 171787719 intron variant T/C snv 0.81
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2008 2008
dbSNP: rs2056202
rs2056202
SLC25A12
0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2008 2008
dbSNP: rs11871753
rs11871753
BRIP1
0.851 0.120 17 61779284 intron variant A/G snv 0.75
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs623011
rs623011 		0.827 0.320 17 70263305 intergenic variant A/G snv 0.74
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2012 2012
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: rs3803662
rs3803662
CASC16
0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2014 2016
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2012 2012
dbSNP: rs16945628
rs16945628
BRIP1
0.851 0.120 17 61789868 intron variant T/C snv 0.60
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 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: 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: rs165599
rs165599
ARVCF ; COMT
0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs10993994
rs10993994
MSMB
0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2009 2009
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs1738074
rs1738074
TAGAP ; LOC105378083 ; LOC107986664
0.790 0.320 6 159044945 5 prime UTR variant T/C snv 0.49
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2012 2012
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: rs740603
rs740603
COMT
0.925 0.040 22 19957654 intron variant A/G snv 0.48
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs2708861
rs2708861
HUS1
0.851 0.120 7 47977120 intron variant T/G snv 0.46
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2012 2012
dbSNP: rs1056663
rs1056663
HUS1
1.000 7 47965365 synonymous variant C/T snv 0.49 0.46
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2012 2012
dbSNP: rs4434401
rs4434401
CAST
0.925 0.040 5 96703321 intron variant T/C snv 0.45
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
COMT ; MIR4761
0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
0.732 0.280 2 217041109 intergenic variant A/G snv 0.44
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs2305089
rs2305089
TBXT
0.827 0.120 6 166165782 missense variant C/T snv 0.48 0.43
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014