rs28933372, GLI3

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.
Greig cephalopolysyndactyly syndrome
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
19 0.827 0.120 7 41966273 missense variant C/G snv 0.710 1.000 5 1997 2013
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
CUI: C4016299
Disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
1 0.827 0.120 7 41966273 missense variant C/G snv 0.700 0
Acrocallosal Syndrome
CUI: C0796147
Disease: Acrocallosal Syndrome
22 0.827 0.120 7 41966273 missense variant C/G snv 0.010 1.000 1 2013 2013
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.827 0.120 7 41966273 missense variant C/G snv 0.010 1.000 1 2013 2013
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.827 0.120 7 41966273 missense variant C/G snv 0.010 1.000 1 2013 2013