Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1306444586
rs1306444586
Entrez Id: 3631
Gene Symbol: INPP4A
INPP4A
CUI: C4551974
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 		T 0.700 GeneticVariation CLINVAR Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. 21931702 2011
dbSNP: rs1306444586
rs1306444586
Entrez Id: 3631
Gene Symbol: INPP4A
INPP4A
CUI: C4551974
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 		T 0.700 GeneticVariation CLINVAR Functional analysis of the pseudoknot structure in human telomerase RNA. 15849264 2005
dbSNP: rs3217304
rs3217304
Entrez Id: 3631
Gene Symbol: INPP4A
INPP4A
CUI: C1827849
Disease:
IgE-mediated allergic asthma 		0.010 GeneticVariation BEFREE Our genetic association studies of 21 human genes in 171 trios led to the identification of a biallelic repeat (rs3217304) in INPP4A, associated with atopic asthma (P = 0.009). 18187694 2008
dbSNP: rs3217304
rs3217304
Entrez Id: 3631
Gene Symbol: INPP4A
INPP4A
CUI: C0155877
Disease:
Allergic asthma 		0.010 GeneticVariation BEFREE Our genetic association studies of 21 human genes in 171 trios led to the identification of a biallelic repeat (rs3217304) in INPP4A, associated with atopic asthma (P = 0.009). 18187694 2008