Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587783451
rs587783451 		1.000 0.080 8 60853012 missense variant A/G snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 15 2004 2015
dbSNP: rs886040993
rs886040993 		1.000 0.080 8 60842051 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 15 2004 2015
dbSNP: rs1165711448
rs1165711448 		1.000 0.080 8 60821842 missense variant C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2004 2015
dbSNP: rs1197494895
rs1197494895 		1.000 0.080 8 60852919 missense variant G/A snv 7.0E-06
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2004 2015
dbSNP: rs1554602465
rs1554602465 		0.882 0.080 8 60845063 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 13 2004 2015
dbSNP: rs864309609
rs864309609 		1.000 0.080 8 60836175 missense variant T/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 13 2004 2015
dbSNP: rs886040988
rs886040988 		1.000 0.080 8 60830422 missense variant T/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 13 2004 2015
dbSNP: rs587783454
rs587783454 		1.000 0.080 8 60854437 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 4 2006 2012
dbSNP: rs794727423
rs794727423 		0.925 0.080 8 60850476 intron variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 4 2006 2016
dbSNP: rs121434343
rs121434343 		0.925 0.080 8 60853047 missense variant G/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs121434344
rs121434344 		0.882 0.080 8 60816389 missense variant C/T snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs1554602465
rs1554602465 		0.882 0.080 8 60845063 missense variant G/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs587783458
rs587783458 		1.000 0.080 8 60862322 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2006 2016
dbSNP: rs886040995
rs886040995 		1.000 0.080 8 60852682 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2006 2016
dbSNP: rs886041167
rs886041167 		1.000 8 60822634 missense variant A/C;G snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 3 2008 2014
dbSNP: rs1554606274
rs1554606274 		1.000 0.080 8 60862337 splice donor variant G/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2012 2014
dbSNP: rs7846314
rs7846314 		8 60738272 intron variant A/T snv 0.27
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs794727423
rs794727423 		0.925 0.080 8 60850476 intron variant G/A snv
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 		0.700 1.000 2 2006 2016
dbSNP: rs794727555
rs794727555 		1.000 0.080 8 60853033 missense variant G/A snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2011 2013
dbSNP: rs864622523
rs864622523 		1.000 0.080 8 60828661 splice acceptor variant A/C snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2012 2014
dbSNP: rs886040991
rs886040991 		0.925 0.080 8 60838115 stop gained C/T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2006 2012
dbSNP: rs10094382
rs10094382 		8 60860726 intron variant C/T snv 0.46
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1060503188
rs1060503188 		1.000 0.080 8 60856592 stop gained C/G;T snv
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1064793994
rs1064793994 		1.000 8 60742393 stop gained G/A;T snv
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.010 1.000 1 2013 2013
dbSNP: rs10957156
rs10957156 		8 60716842 intron variant G/A snv 0.77
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015