Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1135401777
rs1135401777
GNAS
0.925 0.120 20 58853740 missense variant G/A snv 7.0E-06
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		0.700 0
dbSNP: rs1135401777
rs1135401777
GNAS
0.925 0.120 20 58853740 missense variant G/A snv 7.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1135401777
rs1135401777
GNAS
0.925 0.120 20 58853740 missense variant G/A snv 7.0E-06
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.700 0