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
RS751399960 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS751400013 GNB4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases
RS751400994 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS751401941 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS751404531 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS751404811 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS751404890 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related disorder, PHIP-related disorder
RS751404994 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751405998 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS751408049 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751408583 GLMN Health Risk Likely pathogenic Vascular skin disorders, Vascular skin disorders
RS751409106 LIG4 Health Risk Likely pathogenic Papillary thyroid carcinoma, Papillary thyroid carcinoma
RS751409111 CHSY1 Health Risk Conflicting classifications of pathogenicity Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
RS751409326 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS751409618 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS751409835 RELN Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Norman-Roberts syndrome
RS751410046 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS751410120 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751410726 DUOX2 Health Risk Pathogenic/Likely pathogenic —
RS751410815 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group C
RS751411512 USH2A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS751412533 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS751413692 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS751413806 CEP55 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751413984 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 40, Retinal dystrophy
RS751414513 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS751414710 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS751414927 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS751415272 FLVCR1 Health Risk Pathogenic —
RS751415868 SACS Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Spastic paraplegia
RS751417408 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS751417445 NFAT5 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Immunodeficiency
RS751418986 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS751419465 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS751419788 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS751419856 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS751420248 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS751421114 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS751421137 BUB1B Health Risk Conflicting classifications of pathogenicity Premature chromatid separation trait, Mosaic variegated aneuploidy syndrome 1
RS751421307 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS751421456 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, TUFM-related disorder
RS751421723 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS751422368 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS751423106 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS751423380 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS751425603 TALDO1 Health Risk Pathogenic Deficiency of transaldolase, Deficiency of transaldolase
RS751427686 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS751427729 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy
RS751427833 TRPM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS751428303 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS751429016 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Inborn genetic diseases
RS751429361 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Peroxisome biogenesis disorder 9B
RS751430411 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS751430515 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751430853 AP1S1 Health Risk Pathogenic MEDNIK syndrome, AP1S1-related disorder
RS751431158 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS751431238 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751432105 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS751434431 NALCN Health Risk Pathogenic —
RS751436140 ASPM Health Risk Pathogenic —
RS751436440 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS751437333 CEP135 Health Risk Pathogenic Microcephaly 8, primary
RS751437612 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751437780 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS751437976 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS751440011 SMAD6 Health Risk Conflicting classifications of pathogenicity Craniosynostosis 7, Aortic valve disease 2
RS751440465 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS751440831 NEK8 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS751441354 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, Peters plus syndrome
RS751442182 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751442889 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS751444506 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS751445508 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS751446315 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS751446926 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS751447598 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS751447996 OTOA Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Rare genetic deafness
RS751448371 EGR2 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS751448440 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS751448793 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS751449034 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS751449877 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS751450529 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS751450878 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS751453098 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751454643 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS751454645 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Retinal dystrophy
RS751454741 MEFV Health Risk Pathogenic Behcet disease, Behcet disease
RS751454750 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751454852 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS751454994 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS751455326 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS751455361 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, Inborn genetic diseases
RS751455369 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Adult hypophosphatasia
RS751455994 DMD Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Duchenne muscular dystrophy
RS751456004 CYP21A2 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS751456570 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS751456837 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS75145688 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS751458139 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Inborn genetic diseases
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