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
RS746685859 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS746685934 CDK13 Health Risk Conflicting classifications of pathogenicity —
RS746686516 RPS7 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS746687452 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS746687493 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS746690656 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-related disorder
RS746691059 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS746691295 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS746691436 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS746692906 TTR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Carpal tunnel syndrome 1
RS746694561 XPA Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS746696167 POMT1 Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS746696379 TSPAN12 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS746697405 IFT140 Health Risk Conflicting classifications of pathogenicity Orofacial-digital syndrome III, Asphyxiating thoracic dystrophy 1
RS746697423 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS746701187 LRP5 Health Risk Likely pathogenic —
RS746701685 ABCA3 Health Risk Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS746702002 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS746702458 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS746702722 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS746702852 HAAO Health Risk Pathogenic Congenital NAD deficiency disorder, Vertebral
RS746703615 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS746704533 SZT2 Health Risk Pathogenic —
RS746705490 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS746705941 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS746707121 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS746707855 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS746707959 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS746708275 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyloxidase type 2 deficiency, Glucocorticoid-remediable aldosteronism
RS746709222 AGK Health Risk Pathogenic Sengers syndrome, Trichohepatoenteric syndrome 1
RS746709336 POU1F1 Health Risk Conflicting classifications of pathogenicity —
RS746710451 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
RS746710591 KIAA0753 Health Risk Conflicting classifications of pathogenicity —
RS746712068 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS746713750 ITGA6 Health Risk Likely pathogenic —
RS746714109 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS746714213 KDM4B Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 65
RS746715195 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS746715353 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS746716155 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS746716712 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS746718015 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS746719502 STXBP1 Health Risk Conflicting classifications of pathogenicity STXBP1-related disorder, Early-infantile DEE
RS746720158 PKD1 Health Risk Pathogenic —
RS746720978 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS746721892 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS746721983 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746722035 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS746722532 SPTB Health Risk Pathogenic —
RS746723399 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS746723674 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS746724027 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Inborn genetic diseases
RS746724776 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS746725349 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS746726463 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS746727003 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS746728021 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746728127 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746728741 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746729797 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, DDC-related disorder
RS746729857 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS746730267 SCP2 Health Risk Pathogenic —
RS746731138 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Facioscapulohumeral muscular dystrophy 4
RS746731567 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS746732835 ILDR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746733688 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS746734641 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS746736072 F13B Health Risk Pathogenic —
RS746736545 VPS13D Health Risk Pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS746736600 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS746737457 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Severe neurodegenerative syndrome with lipodystrophy
RS746737604 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS746737801 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746737860 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS746738031 MAN2A2 Health Risk Conflicting classifications of pathogenicity —
RS746738154 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS746738191 MED17 Health Risk Pathogenic/Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS746738432 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746738922 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS746740337 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746743791 LTBP4 Health Risk Conflicting classifications of pathogenicity —
RS746744341 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS746744495 ATP1A2 Health Risk Conflicting classifications of pathogenicity Fetal akinesia, respiratory insufficiency
RS746745677 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS746745725 NDUFV1 Health Risk Pathogenic —
RS746745779 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS746746116 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS746748048 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS746748953 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS746749167 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, SCN4A-related disorder
RS746749620 PLCG2 Health Risk Likely pathogenic Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS746749693 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Inborn genetic diseases
RS746750365 SLC10A2 Health Risk Conflicting classifications of pathogenicity —
RS746750426 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS746751083 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS746752313 LRP2 Health Risk Pathogenic/Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS746753722 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS746754189 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS746754428 COL11A2 Health Risk Pathogenic/Likely pathogenic Oculodentodigital dysplasia, autosomal recessive
RS746755735 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
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