rs1555575860, COG4

N. diseases: 31
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.
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
30 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Severe intrauterine growth retardation
CUI: C1855843
Disease: Severe intrauterine growth retardation
3 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Short distal phalanx of finger
CUI: C1839829
Disease: Short distal phalanx of finger
3 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0