Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137854889
rs137854889
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1555038111
rs1555038111
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
G 0.700 CausalMutation CLINVAR

dbSNP: rs1563183492
rs1563183492
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569355102
rs1569355102
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
T 0.700 CausalMutation CLINVAR

dbSNP: rs373145711
rs373145711
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
T 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863223330
rs863223330
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
G 0.700 GeneticVariation CLINVAR

dbSNP: rs864309486
rs864309486
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
T 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015

dbSNP: rs864309487
rs864309487
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015

dbSNP: rs886041065
rs886041065
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
T 0.700 CausalMutation CLINVAR

dbSNP: rs3135718
rs3135718
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
0.010 GeneticVariation BEFREE Results revealed that the rs3135718-GG mutation was more correlated with the risk of microtia in male (P<0.05), but not correlated with the risk of microtia in female (P>0.05). 31258676

2019

dbSNP: rs756096100
rs756096100
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
0.010 GeneticVariation BEFREE Of note, we identified one EVC2 non-synonymous mutation (p.Asp1174Asn) as a potential disease-implicating variant for a human microtia-associated syndrome. 26035869

2015