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: 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: 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: 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: 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: 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: rs121908415
rs121908415
ACTN4 ; LOC107985291
0.925 0.080 19 38710286 missense variant A/G snv 7.0E-06
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 1.000 7 2000 2013
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: rs1060501410
rs1060501410
ENG ; LOC105379841
0.925 0.120 9 127824800 missense variant C/T snv
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		0.700 1.000 6 2005 2016
dbSNP: rs1060501414
rs1060501414
ENG ; LOC105379841
1.000 0.120 9 127825862 splice acceptor variant T/C snv 7.0E-06
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		0.700 1.000 6 1994 2012
dbSNP: rs121909770
rs121909770
SIX1 ; MIR9718
1.000 0.040 14 60648826 missense variant A/T snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.800 1.000 6 2004 2013
dbSNP: rs199473693
rs199473693
ADAMTSL4 ; ADAMTSL4-AS2
0.882 0.160 1 150553750 frameshift variant AGGCCTCTGGCACAGAGCCC/- delins
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.700 1.000 6 2010 2015
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 1.000 6 2011 2017
dbSNP: rs37973
rs37973
GLCCI1 ; GLCCI1-DT
0.807 0.280 7 7968245 intron variant G/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		0.060 0.667 6 2015 2019
dbSNP: rs397515560
rs397515560
SIX1 ; MIR9718
1.000 0.040 14 60648873 missense variant A/C snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 1.000 6 2004 2013
dbSNP: rs397515561
rs397515561
SIX1 ; MIR9718
1.000 0.040 14 60648856 missense variant G/A snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 1.000 6 2004 2013
dbSNP: rs397515562
rs397515562
SIX1 ; MIR9718
1.000 0.040 14 60649140 missense variant A/T snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 1.000 6 2004 2013
dbSNP: rs398123260
rs398123260
IDUA ; SLC26A1
1.000 0.120 4 987119 inframe insertion TCGCTCCTGGCC/-;TCGCTCCTGGCCTCGCTCCTGGCC delins 4.9E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.700 1.000 6 1994 2012
dbSNP: rs80356459
rs80356459
SIX1 ; MIR9718
1.000 0.040 14 60648862 missense variant G/A snv
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.800 1.000 6 2004 2013