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
RS564296987 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 4B, autosomal recessive
RS564306903 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS564308785 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS564309046 SHPK Health Risk Conflicting classifications of pathogenicity —
RS564314108 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS564316199 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS564331848 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
RS564334744 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS564339518 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS564352128 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS564353179 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS564358410 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy
RS564362618 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS564367705 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 14
RS564395221 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Inborn genetic diseases
RS564398642 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS564400636 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS564401238 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS564403550 ELMOD3 Health Risk Conflicting classifications of pathogenicity —
RS564403641 SRD5A2 Health Risk Likely pathogenic —
RS564408927 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS564412855 BBS5 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS564413149 WFS1 Health Risk Uncertain significance/Uncertain risk allele Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
RS564413710 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS564421091 COL9A1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS564427867 PCSK9 Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS564428355 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS564432498 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS564434147 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS564438778 CLIC5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 103, CLIC5-related disorder
RS564439710 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564448342 ANKRD26 Health Risk Conflicting classifications of pathogenicity ANKRD26-related disorder, ANKRD26-related disorder
RS564452430 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS564464466 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS564470096 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS564473574 PTPRO Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 6
RS564477999 TBC1D24 Health Risk Likely pathogenic Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome, TBC1D24-related disorder
RS564494780 SOX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564495912 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS564496088 PNPLA6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 39
RS564501639 SPR Health Risk Conflicting classifications of pathogenicity Dopa-responsive dystonia due to sepiapterin reductase deficiency, Inborn genetic diseases
RS564504598 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS564510830 MED12L Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS564514095 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS564526560 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
RS564532190 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS564532686 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, CHRNA2-related disorder
RS564553038 PDGFB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564554926 DOCK6 Health Risk Conflicting classifications of pathogenicity Microcephaly, Inborn genetic diseases
RS564570407 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS564570566 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Pseudohypoaldosteronism
RS564582352 POLG Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS564588440 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS564593360 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS564595203 OTOG Health Risk Conflicting classifications of pathogenicity —
RS564605452 NPHP1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome with renal defect
RS564605612 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS564606657 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS564622720 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS564628353 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS564631426 NPC1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Niemann-Pick disease
RS564632018 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS564632841 LHCGR Health Risk Conflicting classifications of pathogenicity Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS564637804 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS564645287 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive distal spinal muscular atrophy 1
RS564645548 MYO7A Health Risk Pathogenic —
RS564647544 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS564647937 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS564652222 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS564657106 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS564667614 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS564668486 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS564681878 ANKRD26 Health Risk Conflicting classifications of pathogenicity ANKRD26-related disorder, ANKRD26-related disorder
RS564687150 CENPF Health Risk Likely pathogenic —
RS564701277 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, DYNC2H1-related disorder
RS564705275 YIF1B Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
RS564713154 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS564717613 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS564728455 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS564735357 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS564736113 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS564740435 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
RS564752140 GUCA1B Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS564754426 CRB1 Health Risk Pathogenic Inborn genetic diseases, Stargardt disease
RS564759063 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS564764153 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS564765063 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS564767670 PLCG2 Health Risk Conflicting classifications of pathogenicity Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Familial cold autoinflammatory syndrome 3
RS564784943 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS564786398 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564787975 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS564795973 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS564799796 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS564806219 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS564811653 KIF12 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS564812596 GGCX Health Risk Pathogenic GGCX-related disorder, GGCX-related disorder
RS564822776 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS564822781 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS564847999 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS564855597 OBSL1 Health Risk Conflicting classifications of pathogenicity —
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