Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041093
rs886041093
EHMT1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312687
rs869312687
RIT1
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation 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
dbSNP: rs797044524
rs797044524
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: rs796052686
rs796052686
KCTD7
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs782661984
rs782661984
POLR3GL
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs782515431
rs782515431
PLXNA3
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs778037798
rs778037798
PDZRN3
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs776593168
rs776593168
UBR4
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

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

dbSNP: rs773956500
rs773956500
LAMA5
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs771829423
rs771829423
PHF20
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs769603301
rs769603301
ZFHX3 ; LOC101927978
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs767539150
rs767539150
ZFC3H1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs766464011
rs766464011
LAMA5 ; MIR4758
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs765435034
rs765435034
EDEM3
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs761960636
rs761960636
UBR4
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs761469100
rs761469100
IFT81
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs760929207
rs760929207
OBSL1
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs760297650
rs760297650
MED24
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs759951698
rs759951698
SLC7A8
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR