HSF4, heat shock transcription factor 4, 3299

N. diseases: 31; N. variants: 10
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: rs121909048
rs121909048 		1.000 16 67165827 missense variant T/C snv
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 1.000 2 2002 2006
dbSNP: rs121909049
rs121909049 		1.000 16 67164867 missense variant C/A snv
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 1.000 2 2002 2006
dbSNP: rs121909050
rs121909050 		1.000 16 67165742 missense variant A/G snv
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 1.000 2 2002 2006
dbSNP: rs28937573
rs28937573 		0.882 0.080 16 67165841 missense variant C/T snv
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.800 1.000 2 2002 2006
dbSNP: rs1106304
rs1106304 		16 67163235 synonymous variant C/T snv 1.0E-02 4.6E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1555549755
rs1555549755 		1.000 16 67164900 frameshift variant A/- del
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.700 1.000 1 2013 2013
dbSNP: rs1456161420
rs1456161420 		1.000 16 67169277 splice acceptor variant A/G snv 2.0E-05
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.700 0
dbSNP: rs1567668570
rs1567668570 		1.000 16 67165838 missense variant C/T snv
CUI: C3888417
Disease: CATARACT 5, MULTIPLE TYPES
CATARACT 5, MULTIPLE TYPES 		0.700 0
dbSNP: rs28937573
rs28937573 		0.882 0.080 16 67165841 missense variant C/T snv
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28937573
rs28937573 		0.882 0.080 16 67165841 missense variant C/T snv
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs761738142
rs761738142 		0.925 0.200 16 67169060 stop gained C/A;T snv 8.0E-06; 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs761738142
rs761738142 		0.925 0.200 16 67169060 stop gained C/A;T snv 8.0E-06; 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs79121622
rs79121622 		0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		Eye Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs79121622
rs79121622 		0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs79121622
rs79121622 		0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs79121622
rs79121622 		0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs79121622
rs79121622 		0.827 0.080 16 67165833 missense variant G/A snv 3.3E-04 9.8E-05
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		Eye Diseases 0.010 1.000 1 2014 2014