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
RS371660600 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS371660673 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS371661663 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS371661937 PLG Health Risk Conflicting classifications of pathogenicity Plasminogen deficiency, type I
RS371662397 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS371662800 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS371662809 NALCN Health Risk Conflicting classifications of pathogenicity NALCN-related disorder, NALCN-related disorder
RS371663826 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS371664197 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS371665285 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS371666279 NDUFS7 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 3
RS371666412 ASAH1 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis
RS371666981 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS371667663 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS371667920 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS371668705 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371669661 PCARE Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS371669862 WDR35 Health Risk Likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS371670135 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS371670651 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS371671871 ACTL7A Health Risk Pathogenic Spermatogenic failure 86, Spermatogenic failure 86
RS371672166 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS371672233 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371672410 WNT1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, WNT1-related disorder
RS371672760 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS371673069 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5B
RS371673459 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS371674362 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS371674854 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS371675217 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS371675358 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS371675497 TELO2 Health Risk Conflicting classifications of pathogenicity TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
RS371677498 FLNA Health Risk Conflicting classifications of pathogenicity 9 conditions, Oto-palato-digital syndrome
RS371677551 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS371678104 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, GANAB-related disorder
RS371678190 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS371678936 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371679329 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS371679886 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, CBL-related disorder
RS371680410 TPM1 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia, Cardiomyopathy
RS371681556 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS371681892 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS371683017 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371684582 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371685892 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS371686683 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS371686795 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
RS371687197 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS371687650 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371687802 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS371689052 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS371689870 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS371690301 SCO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS371690344 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS371690893 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS371692301 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS371694616 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS371696692 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS371698853 PRMT7 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS371698893 WDR73 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Galloway-Mowat syndrome 1
RS371699300 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS371700718 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS371701248 NR5A1 Health Risk Conflicting classifications of pathogenicity Oligosynaptic infertility, 46
RS371701421 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS371702432 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS371703803 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO2-related disorder
RS371703979 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS371704034 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS371704528 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS371705356 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS371705916 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS371706268 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS371706327 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS371707134 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS371707151 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS371707778 BICD2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS371709232 TSEN54 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371709760 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS371709824 CPLX1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 63
RS371709966 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS371711135 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS371711564 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS371712497 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371712630 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS371712928 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS371712994 AP4M1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS371713427 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS371714401 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371714495 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS371715057 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS371715787 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371716491 ALAS2 Health Risk Conflicting classifications of pathogenicity —
RS371716779 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS371717411 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS371717486 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Inborn genetic diseases
RS371717826 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS371718349 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS371719028 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371720347 STAC3 Health Risk Pathogenic/Likely pathogenic Bailey-Bloch congenital myopathy, Inborn genetic diseases
RS371720457 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
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