rs587776829, GNAS

N. diseases: 3
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.
Osteoma cutis
CUI: C0334041
Disease: Osteoma cutis
5 0.882 0.200 20 58909194 frameshift variant GACT/- delins 0.700 1.000 2 2013 2015
Pseudohypoparathyroidism, Type Ia
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
20 0.882 0.200 20 58909194 frameshift variant GACT/- delins 0.700 0
Pseudopseudohypoparathyroidism
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
11 0.882 0.200 20 58909194 frameshift variant GACT/- delins 0.700 0