Source: BEFREE

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: rs1290398674
rs1290398674
GNAS
0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		0.010 1.000 1 2014 2014
dbSNP: rs1290398674
rs1290398674
GNAS
0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2015 2015
dbSNP: rs1290398674
rs1290398674
GNAS
0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0406810
Disease: Carney Complex
Carney Complex 		0.010 1.000 1 2014 2014
dbSNP: rs1290398674
rs1290398674
GNAS
0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0346302
Disease: Growth Hormone-Secreting Pituitary Adenoma
Growth Hormone-Secreting Pituitary Adenoma 		0.010 1.000 1 2014 2014
dbSNP: rs1290398674
rs1290398674
GNAS
0.851 0.240 20 58854075 missense variant G/A;T snv
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 1.000 1 2014 2014