Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1014959895
rs1014959895
PRMT7
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs104894366
rs104894366
KRAS
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs104894366
rs104894366
KRAS
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene. 17875939

2007
dbSNP: rs104894366
rs104894366
KRAS
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405

2006
dbSNP: rs1057516034
rs1057516034
NIPBL
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516037
rs1057516037
HDAC8
CUI: C0349588
Disease: Short stature
Short stature 		AC 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1057518834
rs1057518834
DMD
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1057518907
rs1057518907
GNAS
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: rs1057518939
rs1057518939
VPS13B
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518940
rs1057518940
RYR1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519324
rs1057519324
NPR2
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519334
rs1057519334
NPR2
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

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

dbSNP: rs1057519369
rs1057519369
NF1
CUI: C0349588
Disease: Short stature
Short stature 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs1057519370
rs1057519370
NF1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519436
rs1057519436
DHX30
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR