Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309486
rs864309486
GMNN
T 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
dbSNP: rs864309487
rs864309487
GMNN
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137854889
rs137854889
ZMPSTE24
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1555038111
rs1555038111
KMT2A
G 0.700 CausalMutation CLINVAR

dbSNP: rs1563183492
rs1563183492
AUTS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569355102
rs1569355102
DYRK1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs373145711
rs373145711
ASXL1
T 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863223330
rs863223330
SIX1 ; MIR9718
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041065
rs886041065
ASXL2
T 0.700 CausalMutation CLINVAR

dbSNP: rs3135718
rs3135718
FGFR2
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
EVC2
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