Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518907
rs1057518907
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0239479
Disease: Round face
Round face
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0028754
Disease: Obesity
Obesity
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
PITUITARY ADENOMA 3, MULTIPLE TYPES
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
Acth-Independent Macronodular Adrenal Hyperplasia
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0349588
Disease: Short stature
Short stature
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0039621
Disease: Tetany
Tetany
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia
T 0.700 CausalMutation CLINVAR