rs797045046, GNAS

N. diseases: 2
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 0.925 0.120 20 58891760 stop gained C/G;T snv 5.0E-06 0.700 1.000 4 2000 2016
Pseudopseudohypoparathyroidism
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
11 0.925 0.120 20 58891760 stop gained C/G;T snv 5.0E-06 0.700 1.000 4 2000 2016