Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519451
rs1057519451
NRXN3 ; LOC105370589
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057521737
rs1057521737
EP300
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation 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: rs1060505041
rs1060505041
NACC1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1064795104
rs1064795104
EXOC6B
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
dbSNP: rs1064795104
rs1064795104
EXOC6B
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
dbSNP: rs1064796765
rs1064796765
DYNC1H1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307135
rs1085307135
PUF60
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307139
rs1085307139
PUF60 ; SCRIB
CUI: C0349588
Disease: Short stature
Short stature 		GC 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691804
rs1131691804
FBN1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs113993993
rs113993993
SBDS
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1158061584
rs1158061584
N4BP2L2
CUI: C0349588
Disease: Short stature
Short stature 		AT 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
MFN2
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs120074160
rs120074160
SBDS
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121434616
rs121434616
CUL4B
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: rs121912651
rs121912651
TP53
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: rs121912855
rs121912855
COL7A1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121913115
rs121913115
FGFR3
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
FGFR3
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR