Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201306926
rs201306926
CLGN
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs200635937
rs200635937
GPR161
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs200034765
rs200034765
HKDC1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922466
rs193922466
SHOX
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs188675529
rs188675529
THAP11 ; CENPT
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs181109321
rs181109321
TTPA
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1568162263
rs1568162263
MED24
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1568105562
rs1568105562
FZD2
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1567966432
rs1567966432
GREB1L ; LOC101927521
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1567547614
rs1567547614
FBRS
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1566615893
rs1566615893
RNF31
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566529937
rs1566529937
RASA3
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1565798439
rs1565798439
ZFC3H1
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1565191262
rs1565191262
FAM111B
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1564726619
rs1564726619
HKDC1 ; LOC101928994
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1563293555
rs1563293555
HOOK3
CUI: C0349588
Disease: Short stature
Short stature 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1562456317
rs1562456317
USP45 ; TSTD3
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1562391520
rs1562391520
USP45 ; TSTD3
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1562308994
rs1562308994
USP45 ; TSTD3
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 GeneticVariation CLINVAR

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: 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