Source: UNIPROT

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: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		0.850 1.000 4 1991 2018
dbSNP: rs137854531
rs137854531
GNAS
1.000 0.120 20 58903569 missense variant T/C snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 1.000 10 1993 2005
dbSNP: rs137854532
rs137854532
GNAS
0.882 0.160 20 58905443 missense variant C/T snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 1.000 10 1993 2015
dbSNP: rs137854534
rs137854534
GNAS
1.000 0.120 20 58909715 missense variant C/G snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 1.000 10 1993 2005
dbSNP: rs137854538
rs137854538
GNAS
1.000 0.120 20 58909553 missense variant G/A snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 1.000 10 1993 2005
dbSNP: rs137854539
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.800 1.000 10 1993 2005
dbSNP: rs121913495
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.800 1.000 1 2003 2003
dbSNP: rs397514456
rs397514456
GNAS
1.000 0.120 20 58910818 stop gained G/A;T snv
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		0.800 1.000 1 2011 2011
dbSNP: rs397514457
rs397514457
GNAS
1.000 0.120 20 58910807 missense variant T/G snv
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C 		0.800 1.000 1 2011 2011
dbSNP: rs11554273
rs11554273
GNAS
0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		0.800 0
dbSNP: rs137854535
rs137854535
GNAS
0.925 0.120 20 58909737 missense variant C/T snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.700 1.000 10 1993 2005
dbSNP: rs137854537
rs137854537
GNAS
0.925 0.120 20 58910740 missense variant G/A;T snv
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		0.700 1.000 1 2011 2011