rs397514457, GNAS

N. diseases: 1
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 1C
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
5 1.000 0.120 20 58910807 missense variant T/G snv 0.800 1.000 1 2011 2011