Source: CLINVAR

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1014959895
rs1014959895
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518791
rs1057518791
CUI: C0349588
Disease: Short stature
Short stature
0.700 GeneticVariation CLINVAR

dbSNP: rs1057518799
rs1057518799
CUI: C0349588
Disease: Short stature
Short stature
0.700 GeneticVariation CLINVAR

dbSNP: rs1057518834
rs1057518834
DMD
CUI: C0349588
Disease: Short stature
Short stature
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518863
rs1057518863
CUI: C0349588
Disease: Short stature
Short stature
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518907
rs1057518907
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518908
rs1057518908
CUI: C0349588
Disease: Short stature
Short stature
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518939
rs1057518939
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518940
rs1057518940
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0349588
Disease: Short stature
Short stature
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519436
rs1057519436
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR

dbSNP: rs1057519451
rs1057519451
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR

dbSNP: rs1131691804
rs1131691804
CUI: C0349588
Disease: Short stature
Short stature
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs113993993
rs113993993
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119103263
rs119103263
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs119473033
rs119473033
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs120074160
rs120074160
CUI: C0349588
Disease: Short stature
Short stature
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs121434616
rs121434616
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs121912854
rs121912854
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs121912855
rs121912855
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs121913115
rs121913115
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs121913482
rs121913482
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs121918461
rs121918461
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs141322087
rs141322087
CUI: C0349588
Disease: Short stature
Short stature
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1801175
rs1801175
CUI: C0349588
Disease: Short stature
Short stature
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015