Source: CURATED

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: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		0.700 0
dbSNP: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.700 0
dbSNP: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C4021004
Disease: Short middle phalanx of the 4th toe
Short middle phalanx of the 4th toe 		0.700 0