Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141322087
rs141322087
ABCC8
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1344172059
rs1344172059
ABCC8
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499548
rs1060499548
ABL1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
dbSNP: rs1562137453
rs1562137453
ADGRB3
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1562005199
rs1562005199
ADGRB3
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs886039900
rs886039900
AHDC1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519338
rs1057519338
AMMECR1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1569405174
rs1569405174
AMMECR1 ; LOC105373312
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs879253753
rs879253753
ANKRD11
CUI: C0349588
Disease: Short stature
Short stature 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1567280099
rs1567280099
ANKS3
CUI: C0349588
Disease: Short stature
Short stature 		CG 0.700 CausalMutation CLINVAR

dbSNP: rs312262690
rs312262690
ANTXR2
CUI: C0349588
Disease: Short stature
Short stature 		AG 0.700 CausalMutation CLINVAR

dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs797045283
rs797045283
ARID1B
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907144
rs387907144
ARID1B
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
dbSNP: rs387907144
rs387907144
ARID1B
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs1557106484
rs1557106484
ATRX
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs180177035
rs180177035
BRAF
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1568383758
rs1568383758
BRD4
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs606231450
rs606231450
BRF1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs606231416
rs606231416
BRF1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR