rs1567941252, PCGF2

N. diseases: 10
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.
Crumpled ear
CUI: C4024166
Disease: Crumpled ear
5 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
Abnormality of the outer ear
CUI: C1846460
Disease: Abnormality of the outer ear
8 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
Congenital Camptodactyly
CUI: C0685409
Disease: Congenital Camptodactyly
10 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
Low Vision
CUI: C0042798
Disease: Low Vision
51 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0