rs1272546759, 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.
Calcinosis cutis
CUI: C0006664
Disease: Calcinosis cutis
1 0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06 0.700 0
Disproportionate short stature
CUI: C0878659
Disease: Disproportionate short stature
6 0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06 0.700 0
Pseudopseudohypoparathyroidism
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
11 0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06 0.700 0
Short metacarpal
CUI: C1837084
Disease: Short metacarpal
7 0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06 0.700 0