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
RS76401964 PNPT1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 13, Inborn genetic diseases
RS764019690 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS764020019 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS764020784 RAB11A Health Risk Conflicting classifications of pathogenicity —
RS764022114 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS764023083 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS764023822 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS764024269 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS764025364 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS764025875 CDH23 Health Risk Conflicting classifications of pathogenicity Pituitary adenoma 5, multiple types
RS764026145 TNFRSF6B Health Risk Conflicting classifications of pathogenicity —
RS764026385 FOXL1 Health Risk Conflicting classifications of pathogenicity Otosclerosis 11, Otosclerosis 11
RS764026969 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS764027029 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS764028295 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS764028320 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS764028978 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS764029414 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS764029536 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS764030196 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS764031568 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS764035021 TTN Health Risk Conflicting classifications of pathogenicity —
RS764036283 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS764036360 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS764037565 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS764037830 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS764038221 ROBO4 Health Risk Likely pathogenic Aortic valve disease 3, Bicuspid aortic valve
RS764039230 HMGCL Health Risk Conflicting classifications of pathogenicity Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS764039432 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS764040146 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS764040645 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS764041557 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS764041869 TANC2 Health Risk Pathogenic/Likely pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Neurodevelopmental disorder
RS764042245 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS764042837 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS764042910 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS764043352 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS764045158 COL11A2 Health Risk Pathogenic/Likely pathogenic Fibrochondrogenesis 2, Autosomal recessive nonsyndromic hearing loss 53
RS764045674 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS764046610 COL4A3 Health Risk Pathogenic/Likely pathogenic Hematuria, benign familial
RS764047509 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764048407 CFAP69 Health Risk Pathogenic Spermatogenic failure 24, Spermatogenic failure 24
RS764051026 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS764052634 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764053163 TSEN2 Health Risk Likely pathogenic —
RS764053964 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS764054659 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS764054683 ATP1A1 Health Risk Conflicting classifications of pathogenicity —
RS764055331 MMP2 Health Risk Conflicting classifications of pathogenicity —
RS764056784 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS764057581 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS764057679 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS764058065 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS764058481 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS764059405 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764059609 USH1C Health Risk Conflicting classifications of pathogenicity —
RS764060282 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS764060500 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS764060752 MME Health Risk Pathogenic/Likely pathogenic —
RS764061176 EGF Health Risk Likely pathogenic —
RS764062606 ERCC3 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS764064217 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS764064779 NDUFA9 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 26
RS764066045 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS764066541 HR Health Risk Pathogenic —
RS764067083 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS764068013 TRPM1 Health Risk Likely pathogenic —
RS764070148 TNXB Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS764070268 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS764070280 DNHD1 Health Risk Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS764071122 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS764072757 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS764074545 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS764076380 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS764078087 KCNJ1 Health Risk Pathogenic/Likely pathogenic Bartter syndrome, Bartter disease type 2
RS764079291 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS764079701 HNF1B Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS764079802 MCM4 Health Risk Conflicting classifications of pathogenicity —
RS764081252 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764082747 HAX1 Health Risk Pathogenic/Likely pathogenic Kostmann syndrome, Severe congenital neutropenia
RS764084155 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS764084156 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS764084563 SLC5A2 Health Risk Pathogenic/Likely pathogenic Familial renal glucosuria, SLC5A2-related disorder
RS764085684 TBCD Health Risk Pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS764085979 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS764086211 LRP2 Health Risk Likely pathogenic —
RS764086459 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS764086464 CNGA1 Health Risk Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS764086484 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS764089304 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS764090370 KIRREL1 Health Risk Pathogenic Nephrotic syndrome, type 23
RS764091042 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group B, Fanconi anemia
RS764091969 TCTN3 Health Risk Pathogenic/Likely pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS764093382 LNPK Health Risk Pathogenic —
RS764093488 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS764094211 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS764094665 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Ichthyosis vulgaris
RS764094963 SLC38A8 Health Risk Pathogenic —
RS764095375 NIN Health Risk Conflicting classifications of pathogenicity —
RS764095834 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
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