rs137854532, GNAS

N. diseases: 4
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.
Pseudohypoparathyroidism, Type Ia
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
20 0.882 0.160 20 58905443 missense variant C/T snv 0.800 1.000 11 1993 2015
Enchondroma
CUI: C1704356
Disease: Enchondroma
13 0.882 0.160 20 58905443 missense variant C/T snv 0.010 1.000 1 2008 2008
Enchondromatosis
CUI: C0014084
Disease: Enchondromatosis
2 0.882 0.160 20 58905443 missense variant C/T snv 0.010 1.000 1 2008 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.882 0.160 20 58905443 missense variant C/T snv 0.010 1.000 1 2008 2008