SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)

RSID	Gene	Category	Clinical Significance	Conditions
RS63751704	MLH1	Health Risk	Pathogenic	Lynch syndrome, Lynch syndrome
RS63751705	MLH1	Health Risk	Pathogenic	Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751707	MLH1	Health Risk	Pathogenic	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751709	MLH1	Health Risk	Pathogenic	Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751710	MLH1	Health Risk	Pathogenic	Lynch syndrome, Lynch syndrome
RS63751711	MLH1	Health Risk	Likely pathogenic	Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751712	MSH2	Health Risk	Pathogenic	Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751713	MLH1	Health Risk	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS63751715	MLH1	Health Risk	Pathogenic	Lynch syndrome, Hereditary cancer-predisposing syndrome
RS63751891	MLH1	Health Risk	Pathogenic	Lynch syndrome, Lynch syndrome
RS63751892	MLH1	Health Risk	Pathogenic	Lynch syndrome, Mismatch repair cancer syndrome 1
RS63751898	HMX1	Health Risk	Pathogenic	Oculoauricular syndrome, Oculoauricular syndrome
RS6407	CYP11B1	Health Risk	Conflicting classifications of pathogenicity	Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS6411	CYP11B1	Health Risk	Conflicting classifications of pathogenicity	Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS6413432	CYP2E1	Health Risk	association	CYP2E16 ALLELE, CYP2E16 ALLELE
RS6413458	APOB	Health Risk	Conflicting classifications of pathogenicity	Hypercholesterolemia, familial
RS6413463	CDKN2A	Health Risk	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS6413464	CDKN2A	Health Risk	Conflicting classifications of pathogenicity	Familial melanoma, Hereditary cancer-predisposing syndrome
RS6413483	GHR	Health Risk	Conflicting classifications of pathogenicity	—
RS6413484	GHR	Health Risk	Conflicting classifications of pathogenicity	Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect
RS6413500	IL4R	Health Risk	Conflicting classifications of pathogenicity	IgE responsiveness, atopic
RS6413508	NBN	Health Risk	Conflicting classifications of pathogenicity	Microcephaly, normal intelligence and immunodeficiency
RS6434313	COL5A2	Health Risk	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome, classic type
RS6445	CYP21A2	Health Risk	Pathogenic	ADRENAL HYPERPLASIA, CONGENITAL
RS6447	CYP21A2	Health Risk	Conflicting classifications of pathogenicity	ADRENAL HYPERPLASIA, CONGENITAL
RS6449213	SLC2A9	Health Risk	association	Uric acid concentration, serum
RS6457452	HSPA1B	Health Risk	association	Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS6467	CYP21A2	Health Risk	Conflicting classifications of pathogenicity	ADRENAL HYPERPLASIA, CONGENITAL
RS6471	CYP21A2	Health Risk	Pathogenic/Likely pathogenic	ADRENAL HYPERPLASIA, CONGENITAL
RS6471482	CNGB3	Health Risk	Pathogenic	Achromatopsia 3, Achromatopsia 3
RS6475	CYP21A2	Health Risk	Pathogenic	ADRENAL HYPERPLASIA, CONGENITAL
RS6476	CYP21A2	Health Risk	Conflicting classifications of pathogenicity	ADRENAL HYPERPLASIA, CONGENITAL
RS6493311	SLC12A1	Health Risk	Pathogenic	—
RS650616	PINK1	Health Risk	Uncertain risk allele	Leprosy, susceptibility to
RS6535454	COQ2	Health Risk	Conflicting classifications of pathogenicity	Coenzyme Q10 deficiency, primary
RS6548238	-	Health Risk	risk factor	Obesity, Obesity
RS655423	INPPL1	Health Risk	Pathogenic	Opsismodysplasia, Opsismodysplasia
RS659366	UCP2	Health Risk	risk factor	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
RS661	PSEN1	Health Risk	Pathogenic	Alzheimer disease 3, Pick disease
RS66468541	HSPD1	Health Risk	Pathogenic	Hereditary spastic paraplegia 13, Hereditary spastic paraplegia 13
RS66469337	OTC	Health Risk	Conflicting classifications of pathogenicity	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66489346	COL1A1	Health Risk	Pathogenic	Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS66490707	COL1A1	Health Risk	Pathogenic	Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS66492417	ABCC6	Health Risk	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS66494876	COL1A1	Health Risk	Pathogenic/Likely pathogenic	Osteogenesis imperfecta, perinatal lethal
RS66500027	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66507857	COL1A2	Health Risk	Pathogenic	—
RS66511271	COL1A1	Health Risk	Pathogenic	Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS66512766	OTC	Health Risk	Likely pathogenic	—
RS66516450	COL1A2	Health Risk	Pathogenic	Ehlers-Danlos syndrome, classic type
RS66521141	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66523073	COL1A1	Health Risk	Pathogenic	Osteogenesis imperfecta type III, COL1A1-related disorder
RS66527965	COL1A1	Health Risk	Pathogenic/Likely pathogenic	Osteogenesis imperfecta, type III/IV
RS66539573	OTC	Health Risk	Likely pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66547671	COL1A2	Health Risk	Likely pathogenic	—
RS66550389	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66555264	COL1A1	Health Risk	Pathogenic	Osteogenesis imperfecta type I, 7 conditions
RS66556380	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66564822	OTC	Health Risk	Pathogenic	—
RS6657239	ABCA4	Health Risk	Conflicting classifications of pathogenicity	ABCA4-related disorder, Retinal dystrophy
RS66583685	CYP1B1	Health Risk	Conflicting classifications of pathogenicity	Glaucoma 3A, Glaucoma 3
RS66592376	COL1A1	Health Risk	Conflicting classifications of pathogenicity	Connective tissue disorder, Osteogenesis imperfecta type I
RS6660707	USH2A	Health Risk	Likely pathogenic	Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS66612022	COL1A2	Health Risk	Pathogenic	6 conditions, Osteogenesis imperfecta with normal sclerae
RS66614512	GBP1	Health Risk	Likely pathogenic	Neutrophil inclusion bodies, Neutrophil inclusion bodies
RS66616070	ABCC6	Health Risk	Likely pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS66619856	COL1A2	Health Risk	Pathogenic	Osteogenesis imperfecta, perinatal lethal
RS66620415	NPC1	Health Risk	Conflicting classifications of pathogenicity	Niemann-Pick disease, type C1
RS66626662	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66642398	OTC	Health Risk	Likely pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66656800	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Squamous cell carcinoma of the head and neck
RS6666	PRSS1	Health Risk	Conflicting classifications of pathogenicity	Hereditary pancreatitis, Hereditary pancreatitis
RS66664580	COL1A1	Health Risk	Pathogenic/Likely pathogenic	Osteogenesis imperfecta type I, 8 conditions
RS66677059	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66693137	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66721653	COL1A1	Health Risk	Pathogenic	Osteogenesis imperfecta with normal sclerae, dominant form
RS66724222	OTC	Health Risk	Likely pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS6672843	SDCCAG8	Health Risk	Conflicting classifications of pathogenicity	Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS66737144	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Nonpapillary renal cell carcinoma
RS66741318	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66761141	COL1A1	Health Risk	Likely pathogenic	—
RS66773001	COL1A2	Health Risk	Pathogenic	Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS667773	PAX6	Health Risk	Conflicting classifications of pathogenicity	Autosomal dominant keratitis, Aniridia 1
RS66785829	ANK2	Health Risk	Conflicting classifications of pathogenicity	Cardiovascular phenotype, Familial dilated cardiomyopathy and peripheral neuropathy
RS66792339	ANK2	Health Risk	Conflicting classifications of pathogenicity	Cardiac arrhythmia, Long QT syndrome
RS6681	MGST3	Health Risk	association	Pulmonary disease, chronic obstructive
RS66820119	COL1A2	Health Risk	Pathogenic	Ehlers-Danlos syndrome, arthrochalasia type
RS6682046	MPZ	Health Risk	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D
RS66851495	OTC	Health Risk	Likely pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66864704	ABCC6	Health Risk	Conflicting classifications of pathogenicity	Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS66867430	OTC	Health Risk	Pathogenic	Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS66876876	SCN1B	Health Risk	Conflicting classifications of pathogenicity	Brugada syndrome 5, Generalized epilepsy with febrile seizures plus
RS66883877	COL1A2	Health Risk	Pathogenic	Dentinogenesis imperfecta, Ehlers-Danlos syndrome
RS66898362	ABCC2	Health Risk	Pathogenic	ABCC2-related disorder, Dubin-Johnson syndrome
RS6690005	CYP4Z1	Health Risk	association	Pulmonary disease, chronic obstructive
RS66913554	ABCC6	Health Risk	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS66929517	COL1A1	Health Risk	Pathogenic	Osteogenesis imperfecta, perinatal lethal
RS66929519	COL1A1	Health Risk	Pathogenic	Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS6697155	CENPF	Health Risk	Conflicting classifications of pathogenicity	—
RS66999265	COL1A2	Health Risk	Pathogenic	Ehlers-Danlos syndrome, classic type

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