Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373957300
rs373957300
BRF1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs370270828
rs370270828
BRF1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121908216
rs121908216
CACNA1A
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554389088
rs1554389088
CAMK2B
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs267606706
rs267606706
CBL
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs782144677
rs782144677
CHD1L ; LINC00624
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs201306926
rs201306926
CLGN
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1560743601
rs1560743601
CLGN
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1560739587
rs1560739587
CLGN
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557810606
rs1557810606
CLIC4
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs984649575
rs984649575
CLIP1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555575860
rs1555575860
COG4
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518908
rs1057518908
COL2A1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs780261665
rs780261665
COL7A1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912855
rs121912855
COL7A1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518863
rs1057518863
COL7A1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs775707132
rs775707132
CPZ ; GPR78
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs375633720
rs375633720
CPZ ; GPR78
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs875989777
rs875989777
CTSA
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs875989777
rs875989777
CTSA
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs875989777
rs875989777
CTSA
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs137854544
rs137854544
CTSA
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848

2000
dbSNP: rs137854544
rs137854544
CTSA
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014