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
RS370359511 CIB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 48, Childhood onset hearing loss
RS370360082 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS370360673 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS370360812 KRIT1 Health Risk Conflicting classifications of pathogenicity Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
RS370361482 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS370361925 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, CSF1R-related disorder
RS370361926 CHD7 Health Risk Pathogenic —
RS370362235 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS370362368 GALNT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370363342 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS370364142 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS370364475 RAX2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 6, Cone-rod dystrophy 11
RS370364530 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, ARID1B-related disorder
RS370364755 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS370365121 ANO10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370366576 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS370367708 SLC25A3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy-hypotonia-lactic acidosis syndrome, SLC25A3-related disorder
RS370367786 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS370368596 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS370368811 ABCG5 Health Risk Likely pathogenic Sitosterolemia, Sitosterolemia
RS370369972 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS370370070 PDSS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coenzyme Q10 deficiency
RS370370098 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS370370334 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS370373017 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS370375148 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS370375322 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder
RS370376159 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS370376314 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS370376334 DNMT3A Health Risk Pathogenic —
RS370376771 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370378060 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS370378607 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS370378906 TWNK Health Risk Conflicting classifications of pathogenicity —
RS370380369 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS370380553 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS370381949 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS370382032 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS370382419 FSCN2 Health Risk Conflicting classifications of pathogenicity —
RS370382506 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS370382601 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, ACSF3-related disorder
RS370382673 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS370382902 MADD Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies, impaired speech
RS370383198 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS370383438 WNT5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370383574 USH2A Health Risk Conflicting classifications of pathogenicity —
RS370384351 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS370384522 CDCA7 Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 3, Immunodeficiency-centromeric instability-facial anomalies syndrome 3
RS370385005 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Troyer syndrome
RS370385055 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS370385319 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS370386947 TRIOBP Health Risk Conflicting classifications of pathogenicity TRIOBP-related disorder, TRIOBP-related disorder
RS370387270 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome
RS370387758 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS370388701 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS370389707 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS370390570 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS370391049 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS370391171 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS370391371 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS370391413 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS370391681 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS370393086 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS370393672 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS370393808 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS370395134 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS370395532 MYO7A Health Risk Conflicting classifications of pathogenicity MYO7A-related disorder, Autosomal dominant nonsyndromic hearing loss 11
RS370395919 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS370396152 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Noonan syndrome 8
RS370396470 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS370397270 BEST1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, Retinitis pigmentosa
RS370397767 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS370398342 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS370398543 CDH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370398704 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS370398832 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS370399954 CHM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370400740 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS370401336 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, VPS13A-related disorder
RS370401767 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Inborn genetic diseases
RS370402083 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS370402596 SI Health Risk Pathogenic —
RS370403197 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS370404126 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS370404312 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS370404391 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS370404701 ANO3 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS370406004 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS370406338 FLNC Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS370406516 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS370406639 REEP6 Health Risk Pathogenic —
RS370406973 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS370407165 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS370407461 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS370407502 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS370409067 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS370411414 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS370411488 NDUFS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS370411582 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS370412052 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
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