Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518879
rs1057518879
PLOD1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060505041
rs1060505041
NACC1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692034
rs1131692034
EDA
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131692229
rs1131692229
KIDINS220
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1135402759
rs1135402759
ZEB2
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1164484724
rs1164484724
MAN1B1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913375
rs121913375
BRAF
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121918460
rs121918460
PTPN11
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1276519904
rs1276519904
H3-3A
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137852981
rs137852981
ZEB2
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1400419650
rs1400419650
TRIP11
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555386022
rs1555386022
TRIP11
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1559662068
rs1559662068
BRPF1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1567368243
rs1567368243
SIN3A
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019
dbSNP: rs180177035
rs180177035
BRAF
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		C 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs180177035
rs180177035
BRAF
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		C 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs190521996
rs190521996
PMM2
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		C 0.700 CausalMutation CLINVAR

dbSNP: rs199473457
rs199473457
KCNQ1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		T 0.700 CausalMutation CLINVAR

dbSNP: rs28936415
rs28936415
PMM2
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		A 0.700 CausalMutation CLINVAR

dbSNP: rs312262690
rs312262690
ANTXR2
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		AG 0.700 CausalMutation CLINVAR

dbSNP: rs376754460
rs376754460
PMM2
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		A 0.700 GeneticVariation CLINVAR