Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060505041
rs1060505041
NACC1
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553212868
rs1553212868
POGZ
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555570110
rs1555570110
MPDU1
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555789019
rs1555789019
TCF4
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		GGGAC 0.700 CausalMutation CLINVAR

dbSNP: rs1557036768
rs1557036768
HUWE1
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs188675529
rs188675529
THAP11 ; CENPT
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs387906692
rs387906692
PRKAR1A ; FAM20A
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397517154
rs397517154
SOS1
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398122394
rs398122394
ALG13
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		G 0.700 CausalMutation CLINVAR

dbSNP: rs398124401
rs398124401
SRD5A3
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853250
rs878853250
SCN8A
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		C 0.700 CausalMutation CLINVAR