rs1553761113, ATR

N. diseases: 5
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.
Clinodactyly
CUI: C4551485
Disease: Clinodactyly
18 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
Seckel syndrome 1
CUI: C4551474
Disease: Seckel syndrome 1
8 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0