rs864309532, PHF6

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0
Borjeson-Forssman-Lehmann syndrome
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
15 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0
Short middle phalanx of the 4th toe
CUI: C4021004
Disease: Short middle phalanx of the 4th toe
1 0.807 0.360 X 134393952 missense variant G/A snv 0.700 0