HSF4, heat shock transcription factor 4, 3299

N. diseases: 31; N. variants: 10
Disease: CATARACT 5, MULTIPLE TYPES ×
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: 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