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
RS137854861 LTBP2 Health Risk Conflicting classifications of pathogenicity Pseudoexfoliation glaucoma, Weill-Marchesani syndrome
RS137854863 LTBP2 Health Risk Conflicting classifications of pathogenicity Primary open angle glaucoma, Microspherophakia and/or megalocornea
RS137854876 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854877 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854879 TSC2 Health Risk Likely pathogenic Tuberous sclerosis syndrome, TSC2-related disorder
RS137854880 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854882 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS137854886 LTBP2 Health Risk Conflicting classifications of pathogenicity Pseudoexfoliation glaucoma, Weill-Marchesani syndrome
RS137854887 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS137854888 DNAJC19 Health Risk Pathogenic 3-methylglutaconic aciduria type 5, DNAJC19-related disorder
RS137854889 ZMPSTE24 Health Risk Pathogenic Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome
RS137854890 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS137854891 ABCG8 Health Risk Pathogenic Sitosterolemia 1, Sitosterolemia 1
RS137854895 LTBP2 Health Risk Pathogenic Glaucoma 3, primary congenital
RS137854907 ARL6 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 3
RS137855422 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A
RS1378555453 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS137855767 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
RS137856939 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS137857342 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137858712 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1
RS1378590183 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 1
RS137859412 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS137860025 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS137860047 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1378603446 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS137860861 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS137861347 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS137862641 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1378646156 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS137865262 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS1378659602 CCDC88C Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 40, Hydrocephalus
RS1378662017 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1378663182 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1378664671 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS137866968 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS1378679640 GJB2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, 7 conditions
RS1378679988 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS137868043 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS137868047 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS137868143 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS137868226 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS137868356 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS137868995 MYMK Health Risk Pathogenic/Likely pathogenic Congenital nonprogressive myopathy with Moebius and Robin sequences, Carey-Fineman-Ziter syndrome 1
RS137869198 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS1378695952 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS137869655 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS137870461 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation
RS137870876 PAX5 Health Risk Conflicting classifications of pathogenicity Leukemia, acute lymphoblastic
RS137871407 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS137871492 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS137871935 SEMA3A Health Risk Conflicting classifications of pathogenicity SEMA3A-related disorder, Hypogonadotropic hypogonadism 16 with or without anosmia
RS137872361 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS1378725834 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1378726802 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS137872711 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS137872925 KRT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137873272 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS137873871 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS137874590 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Hereditary spastic paraplegia
RS137874743 ELP1 Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Familial dysautonomia
RS137875230 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS137875815 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 20
RS137876115 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS137876156 NAXD Health Risk Conflicting classifications of pathogenicity NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
RS137876961 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Retinal dystrophy
RS137877018 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1378771732 DENND5A Health Risk Likely pathogenic DENND5A-related disorder, DENND5A-related disorder
RS137877289 GRK1 Health Risk Pathogenic Oguchi disease-2, Oguchi disease-2
RS137877386 APC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cortical dysplasia
RS137877445 DNAH9 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS137878131 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS137878146 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS137878385 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1378786011 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS137878640 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, Inborn genetic diseases
RS1378791199 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS137879324 ANOS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1378794678 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1378797018 DOCK3 Health Risk Likely pathogenic DOCK3-related disorder, DOCK3-related disorder
RS1378799607 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS137880635 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS137880855 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS1378815381 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1378818859 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS137882210 CLDN16 Health Risk Conflicting classifications of pathogenicity Primary hypomagnesemia, Primary hypomagnesemia
RS137882374 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
RS137882485 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS137882536 LRP4 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 17, Cenani-Lenz syndactyly syndrome
RS1378826651 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS1378830983 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS137883250 LAMC3 Health Risk Conflicting classifications of pathogenicity —
RS137883370 PKD1L1 Health Risk Pathogenic Heterotaxy, visceral
RS137884184 ELF4 Health Risk Pathogenic See cases, Acute myeloid leukemia
RS1378842608 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS137884710 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS137885421 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS137886095 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS137886124 SAG Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 96
RS137886182 NUP160 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 436 437 438 439 440 441 442 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →