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
RS759922477 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS759922532 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS759922677 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS759922995 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive
RS759924541 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome, Brugada syndrome 1
RS759925126 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS759925647 LEPR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759928014 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759928207 MYO18B Health Risk Pathogenic —
RS759929036 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS759929075 TTLL5 Health Risk Pathogenic —
RS759929302 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS759929653 TNXB Health Risk Likely pathogenic Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS759929786 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS759930084 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy
RS759930161 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS759930622 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS759931847 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759932426 MAK Health Risk Likely pathogenic —
RS759933321 STRA6 Health Risk Likely pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS759933475 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS759933503 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS759933539 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS759934326 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS759934490 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS759935029 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Nephronophthisis 8
RS759935618 CHST3 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS759935686 BMPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primary pulmonary hypertension
RS759936287 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS759937489 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS759937525 CRB2 Health Risk Conflicting classifications of pathogenicity Ventriculomegaly-cystic kidney disease, Focal segmental glomerulosclerosis 9
RS759939173 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS759939544 SYNE1 Health Risk Pathogenic —
RS759939755 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS759940113 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 6
RS759940297 NDUFAF5 Health Risk Pathogenic —
RS759941975 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS759942986 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759944122 TBATA Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS759944815 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS759944835 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS759944879 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS759945007 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS759945787 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS759945798 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS759946299 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS759947457 FA2H Health Risk Pathogenic Hereditary spastic paraplegia 35, Spastic paraplegia
RS759947869 RPS24 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 3, Diamond-Blackfan anemia
RS759949767 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS759950370 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS759950763 CLIC5 Health Risk Conflicting classifications of pathogenicity —
RS759951393 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS759951698 SLC7A8 Health Risk Likely pathogenic Short stature, Short stature
RS759951793 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS759952363 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS759952667 DEPDC5 Health Risk Pathogenic/Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS759953073 USH1G Health Risk Pathogenic —
RS759953502 STT3A Health Risk Likely pathogenic Congenital disorder of glycosylation, type Iw
RS759953813 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS759955745 NTHL1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS759956258 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS759957857 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS759958419 PCNT Health Risk Likely pathogenic —
RS759958601 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS759958799 CACNB2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 4
RS759959471 ABCC2 Health Risk Pathogenic ABCC2-related disorder, ABCC2-related disorder
RS759959904 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS759960173 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS759960319 NBAS Health Risk Pathogenic/Likely pathogenic Infantile liver failure syndrome 2, Infantile liver failure syndrome 2
RS759960679 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy
RS759960744 C5 Health Risk Pathogenic —
RS759961314 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS759961510 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS75996173 RET Health Risk Pathogenic Multiple endocrine neoplasia type 2A, Pheochromocytoma
RS759962057 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759962601 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Inborn genetic diseases
RS759962661 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS759962817 CTNNA1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS759965045 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS759965071 TRIP11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759966247 COA8 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS759966765 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS759968901 COQ8B Health Risk Pathogenic/Likely pathogenic See cases, Nephrotic syndrome
RS759970314 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS759972304 POC1B Health Risk Pathogenic —
RS759972441 SIN3A Health Risk Conflicting classifications of pathogenicity SIN3A-related intellectual disability syndrome due to a point mutation, Uterine corpus endometrial carcinoma
RS759972548 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS759973241 ANK3 Health Risk Pathogenic —
RS759973437 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759973830 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS759974338 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS759974464 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS759975874 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS759976245 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Cardiovascular phenotype
RS759976981 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS759979499 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS759979553 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS759981027 TSEN2 Health Risk Likely pathogenic Hemolytic-uremic syndrome, Hemolytic-uremic syndrome
RS759981467 CDH23 Health Risk Pathogenic Inborn genetic diseases, Usher syndrome type 1
RS759982048 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
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