Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514510
rs397514510
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		0.800 GeneticVariation UNIPROT Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. 23273569 2013
dbSNP: rs397514511
rs397514511
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		0.800 GeneticVariation UNIPROT Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. 23273569 2013
dbSNP: rs397514512
rs397514512
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		0.800 GeneticVariation UNIPROT Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. 23273569 2013
dbSNP: rs397514510
rs397514510
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397514511
rs397514511
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397514512
rs397514512
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		A 0.800 CausalMutation CLINVAR
dbSNP: rs11548491
rs11548491
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0038454
Disease:
Cerebrovascular accident 		0.700 GeneticVariation GWASDB Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia. 23422753 2013
dbSNP: rs397514508
rs397514508
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		T 0.700 CausalMutation CLINVAR Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. 23273567 2013
dbSNP: rs397514509
rs397514509
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		A 0.700 CausalMutation CLINVAR Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. 23273567 2013
dbSNP: rs746647683
rs746647683
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		C 0.700 CausalMutation CLINVAR Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. 23273567 2013
dbSNP: rs878853123
rs878853123
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		T 0.700 CausalMutation CLINVAR Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. 23273567 2013
dbSNP: rs1135401750
rs1135401750
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs655423
rs655423
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs797044468
rs797044468
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs797044469
rs797044469
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs797044470
rs797044470
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0432219
Disease:
Opsismodysplasia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs2276047
rs2276047
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE Two INPPL1 single-nucleotide polymorphisms, rs2276048 (silent mutation) and rs2276047 (intronic), were associated with the metabolic syndrome in men with odds ratios of 0.23 (95% CI 0.11-0.45, P = 2.1 × 10(-5) ), and 0.37 (0.21-0.65, P = 0.001), adjusted for age, duration of diabetes and history of smoking. 22486725 2012
dbSNP: rs2276047
rs2276047
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE Two INPPL1 single-nucleotide polymorphisms, rs2276048 (silent mutation) and rs2276047 (intronic), were associated with the metabolic syndrome in men with odds ratios of 0.23 (95% CI 0.11-0.45, P = 2.1 × 10(-5) ), and 0.37 (0.21-0.65, P = 0.001), adjusted for age, duration of diabetes and history of smoking. 22486725 2012
dbSNP: rs2276048
rs2276048
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE Two INPPL1 single-nucleotide polymorphisms, rs2276048 (silent mutation) and rs2276047 (intronic), were associated with the metabolic syndrome in men with odds ratios of 0.23 (95% CI 0.11-0.45, P = 2.1 × 10(-5) ), and 0.37 (0.21-0.65, P = 0.001), adjusted for age, duration of diabetes and history of smoking. 22486725 2012
dbSNP: rs2276048
rs2276048
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE Two INPPL1 single-nucleotide polymorphisms, rs2276048 (silent mutation) and rs2276047 (intronic), were associated with the metabolic syndrome in men with odds ratios of 0.23 (95% CI 0.11-0.45, P = 2.1 × 10(-5) ), and 0.37 (0.21-0.65, P = 0.001), adjusted for age, duration of diabetes and history of smoking. 22486725 2012
dbSNP: rs2276047
rs2276047
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE In particular, a haplotype of three genetic polymorphisms (rs2276047, rs9886 and an insertion/deletion polymorphism in intron 1) was found to be strongly associated with increased susceptibility to hypertension. 17557929 2007
dbSNP: rs9886
rs9886
Entrez Id: 401;3636
Gene Symbol: PHOX2A;INPPL1
PHOX2A;INPPL1
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE In particular, a haplotype of three genetic polymorphisms (rs2276047, rs9886 and an insertion/deletion polymorphism in intron 1) was found to be strongly associated with increased susceptibility to hypertension. 17557929 2007