Disease: Pseudohypoparathyroidism
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1277191501
PDE4D
0.925 0.280 5 58975716 missense variant G/A snv 2
rs371950648
PDE4D
0.925 0.280 5 58975740 missense variant G/A snv 1.1E-04 1.3E-04 2
rs374011584
PDE4D
0.925 0.280 5 58975776 missense variant G/A snv 1.2E-05 1.4E-05 2
rs766422930
GNAS
0.925 0.280 20 58854188 missense variant C/A;T snv 1.2E-05; 1.6E-05 2