Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs875989803
rs875989803
DDX3X
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs864309487
rs864309487
GMNN
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
dbSNP: rs864309486
rs864309486
GMNN
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
dbSNP: rs797045954
rs797045954
SF3B4
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 CausalMutation CLINVAR

dbSNP: rs794727931
rs794727931
ALG8
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 CausalMutation CLINVAR

dbSNP: rs771409809
rs771409809
WFS1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs61752129
rs61752129
PEX26
CUI: C0025990
Disease: Micrognathism
Micrognathism 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs61750420
rs61750420
PEX1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398122394
rs398122394
ALG13
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 CausalMutation CLINVAR

dbSNP: rs397515789
rs397515789
FBN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs199469465
rs199469465
SRCAP
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs180177135
rs180177135
PALB2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1569355102
rs1569355102
DYRK1A
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555639076
rs1555639076
BPTF
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555398673
rs1555398673
FBN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1553370918
rs1553370918
MYCN
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 CausalMutation CLINVAR

dbSNP: rs137854466
rs137854466
FBN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121918130
rs121918130
INPP5E
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1135401778
rs1135401778
BPTF
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs112550005
rs112550005
FBN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 CausalMutation CLINVAR