rs104894232, HYLS1;PUS3

N. diseases: 4
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.
HYDROLETHALUS SYNDROME 1
CUI: C1856016
Disease: HYDROLETHALUS SYNDROME 1
1 0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 0.800 1.000 1 2005 2005
Hydrolethalus syndrome
CUI: C2931104
Disease: Hydrolethalus syndrome
1 0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 0.710 1.000 5 1990 2016
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 0.010 1.000 1 2016 2016
Deformity
CUI: C0302142
Disease: Deformity
26 0.925 0.160 11 125900000 missense variant A/G snv 1.1E-03 1.0E-03 0.010 1.000 1 2016 2016