Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518914
rs1057518914
RPS6KA3
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519381
rs1057519381
MED12
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499548
rs1060499548
ABL1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
dbSNP: rs112550005
rs112550005
FBN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 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: rs1135402761
rs1135402761
SYT1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

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

dbSNP: rs121918130
rs121918130
INPP5E
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: rs137854466
rs137854466
FBN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1481733213
rs1481733213
ATR
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1553538917
rs1553538917
SATB2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1553761113
rs1553761113
ATR
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
ZNF292
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554333853
rs1554333853
CDK13
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1555398673
rs1555398673
FBN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 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: rs1555731819
rs1555731819
KMT2B
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1558939623
rs1558939623
CHN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 GeneticVariation CLINVAR