Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518864
rs1057518864
TCF4
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518872
rs1057518872
GJA1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518913
rs1057518913
EHMT1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518913
rs1057518913
EHMT1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691299
rs1131691299
DDX3X
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1164484724
rs1164484724
MAN1B1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs1276519904
rs1276519904
H3-3A
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1400419650
rs1400419650
TRIP11
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		A 0.700 CausalMutation CLINVAR

dbSNP: rs149617956
rs149617956
MITF
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189

2016
dbSNP: rs149617956
rs149617956
MITF
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		A 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs149617956
rs149617956
MITF
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		A 0.700 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872

2013
dbSNP: rs149617956
rs149617956
MITF
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		A 0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259

2011
dbSNP: rs1553212868
rs1553212868
POGZ
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554032789
rs1554032789
NIPBL
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554333853
rs1554333853
CDK13
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		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: rs1555154946
rs1555154946
ARID2 ; LOC105369745
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555386022
rs1555386022
TRIP11
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555565774
rs1555565774
EFTUD2
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1559470315
rs1559470315
CTNNB1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		T 0.700 GeneticVariation CLINVAR