Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854544
rs137854544
CTSA
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. 8968752

1996
dbSNP: rs121434616
rs121434616
CUL4B
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1561873941
rs1561873941
CUL7
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs864309521
rs864309521
CUL7 ; KLC4
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1561892336
rs1561892336
CUL7 ; KLC4
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1555954284
rs1555954284
DDX3X
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557853919
rs1557853919
DENND4B
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

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

dbSNP: rs768564744
rs768564744
DNAH17
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs763505389
rs763505389
DNAH17 ; DNAH17-AS1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs771063992
rs771063992
DNAJC21
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs757167361
rs757167361
DPH1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs201435914
rs201435914
DPRX
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1567010427
rs1567010427
DYNC1H1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs797044522
rs797044522
DYRK1A
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044520
rs797044520
DYRK1A
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044519
rs797044519
DYRK1A
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs1569355102
rs1569355102
DYRK1A
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797044526
rs797044526
DYRK1A ; LOC105372797
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015