GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77096466
rs77096466
1.000 0.080 20 58905474 missense variant C/T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1057518907
rs1057518907
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs137854539
rs137854539
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0