Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516044
rs1057516044
ABCC9
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057519443
rs1057519443
MPP4
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1060503383
rs1060503383
SYNGAP1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167291
rs1114167291
ANKRD11
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 CausalMutation CLINVAR

dbSNP: rs112795301
rs112795301
FOXP1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691804
rs1131691804
FBN1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1331463984
rs1331463984
TRAF7
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137852981
rs137852981
ZEB2
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554208945
rs1554208945
ZNF292
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554317931
rs1554317931
GLI3
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554691658
rs1554691658
PTCH1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		GGGTCCACAACATCT 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555932766
rs1555932766
USP9X
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 CausalMutation CLINVAR

dbSNP: rs371011047
rs371011047
DYNC2H1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387906846
rs387906846
ARID1A
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 CausalMutation CLINVAR

dbSNP: rs764926983
rs764926983
DYNC2H1
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs77078070
rs77078070
KLHL7
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		A 0.700 CausalMutation CLINVAR