rs1057518907, GNAS

N. diseases: 16
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.
Acth-Independent Macronodular Adrenal Hyperplasia
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
8 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Hypocalcemia
CUI: C0020598
Disease: Hypocalcemia
13 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
10 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Obesity
CUI: C0028754
Disease: Obesity
1111 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Osteoma cutis
CUI: C0334041
Disease: Osteoma cutis
5 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
PITUITARY ADENOMA 3, MULTIPLE TYPES
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
6 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Pseudohypoparathyroidism Type 1C
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
5 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Pseudohypoparathyroidism, Type Ia
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
20 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
PSEUDOHYPOPARATHYROIDISM, TYPE IB
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
2 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Pseudopseudohypoparathyroidism
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
11 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Round face
CUI: C0239479
Disease: Round face
3 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Subcutaneous nodule
CUI: C0151811
Disease: Subcutaneous nodule
1 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
Tetany
CUI: C0039621
Disease: Tetany
1 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0