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: rs1380858784
rs1380858784
PAX3 ; LOC107985991
1.000 0.040 2 222221369 missense variant G/A snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.800 1.000 20 1992 2014
dbSNP: rs121908928
rs121908928
COCH ; LOC100506071
1.000 0.120 14 30878834 missense variant G/A;T snv 8.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.810 1.000 14 1998 2014
dbSNP: rs121908930
rs121908930
COCH ; LOC100506071
0.925 0.120 14 30878897 missense variant T/A;C snv 4.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.810 1.000 14 1998 2014
dbSNP: rs121908932
rs121908932
COCH ; LOC100506071
0.925 0.120 14 30889763 missense variant G/A;T snv
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.800 1.000 14 1998 2014
dbSNP: rs121908927
rs121908927
COCH ; LOC100506071
1.000 0.120 14 30877686 missense variant T/C;G snv 8.0E-06
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.800 1.000 13 1998 2014
dbSNP: rs121908929
rs121908929
COCH ; LOC100506071
1.000 0.120 14 30878920 missense variant T/C snv
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.800 1.000 13 1998 2014
dbSNP: rs121908931
rs121908931
COCH ; LOC100506071
1.000 0.120 14 30878926 missense variant G/A snv
CUI: C1832425
Disease: Deafness, Autosomal Dominant 9
Deafness, Autosomal Dominant 9 		0.700 1.000 13 1998 2014
dbSNP: rs1554810378
rs1554810378
ENG ; LOC105379841
0.925 0.120 9 127825722 missense variant A/G snv
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.800 1.000 12 1994 2010
dbSNP: rs878853657
rs878853657
ENG ; LOC105379841
0.925 0.120 9 127826586 missense variant C/G snv
CUI: C4551861
Disease: Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia, Hereditary Hemorrhagic, Type 1 		0.700 1.000 12 1994 2010
dbSNP: rs546099787
rs546099787
MMACHC ; CCDC163
1.000 0.160 1 45500412 missense variant A/G snv 1.2E-05
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.800 1.000 11 2006 2017
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		0.090 0.889 9 2007 2018
dbSNP: rs80358260
rs80358260
NPC2 ; ISCA2
0.925 0.160 14 74493217 stop gained C/A;T snv 7.7E-05; 2.4E-05
CUI: C1843366
Disease: NIEMANN-PICK DISEASE, TYPE C2
NIEMANN-PICK DISEASE, TYPE C2 		0.710 1.000 9 2000 2011
dbSNP: rs886039506
rs886039506
ENG ; LOC105379841
0.882 0.160 9 127829770 stop gained G/A snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		0.700 1.000 9 2000 2014
dbSNP: rs1554810378
rs1554810378
ENG ; LOC105379841
0.925 0.120 9 127825722 missense variant A/G snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		0.700 1.000 8 1999 2012
dbSNP: rs754966840
rs754966840
IDUA ; SLC26A1
0.925 0.120 4 987915 missense variant C/T snv 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.710 1.000 8 1995 2014
dbSNP: rs754966840
rs754966840
IDUA ; SLC26A1
0.925 0.120 4 987915 missense variant C/T snv 1.4E-05
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.700 1.000 8 1993 2015
dbSNP: rs878853657
rs878853657
ENG ; LOC105379841
0.925 0.120 9 127826586 missense variant C/G snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		0.700 1.000 8 1998 2014
dbSNP: rs121908416
rs121908416
ACTN4 ; LOC107985291
0.925 0.080 19 38710299 missense variant C/T snv
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 1.000 7 2000 2013
dbSNP: rs121908417
rs121908417
ACTN4 ; LOC107985291
0.925 0.080 19 38710307 missense variant T/C snv
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 1.000 7 2000 2013
dbSNP: rs121909511
rs121909511
CHRNE ; C17orf107
0.925 0.040 17 4900845 missense variant G/A snv
CUI: C4225413
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		0.800 1.000 7 1995 2016
dbSNP: rs1295686
rs1295686
IL13 ; TH2LCRR
0.882 0.160 5 132660151 intron variant T/A;C snv 0.68
CUI: C0004096
Disease: Asthma
Asthma 		0.840 1.000 7 2010 2018
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.857 7 2001 2018
dbSNP: rs397514653
rs397514653
ALDH1A3 ; LOC101927751
1.000 15 100914711 missense variant G/A;C snv 8.0E-06
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.800 1.000 7 2013 2014
dbSNP: rs754619607
rs754619607
ALDH1A3 ; LOC101927751
1.000 15 100892598 missense variant C/T snv 4.0E-06
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 1.000 7 2013 2014
dbSNP: rs104894478
rs104894478
SIX1 ; MIR9718
0.882 0.160 14 60648804 missense variant T/C snv 4.0E-06
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.800 1.000 6 2004 2013