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
RS752660550 DTNBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752660722 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752661566 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS752661599 ERCC5 Health Risk Pathogenic Xeroderma pigmentosum, group G
RS752662529 TTN Health Risk Conflicting classifications of pathogenicity —
RS752664070 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS752664090 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS752664887 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS752665241 OSTM1 Health Risk Pathogenic —
RS752665246 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS752665489 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS752665903 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS752666494 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS752667224 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS752667359 RAB3GAP1 Health Risk Pathogenic Inborn genetic diseases, RAB3GAP1-related disorder
RS752667511 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS752668552 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS752669237 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS752669339 ALDH18A1 Health Risk Likely pathogenic Autosomal recessive complex spastic paraplegia type 9B, Cutis laxa
RS752669828 TTLL5 Health Risk Likely pathogenic —
RS75267011 CNNM4 Health Risk Pathogenic/Likely pathogenic Jalili syndrome, Jalili syndrome
RS752670256 KCNQ1 Health Risk Likely pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS752670374 NDUFV2 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 7
RS752670585 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS752671402 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752671524 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS752671716 CFI Health Risk Likely pathogenic/Pathogenic, low penetrance Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly
RS752672077 MPZL2 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive 111
RS752673492 SEC24D Health Risk Likely pathogenic —
RS752673677 GRHL3 Health Risk Pathogenic Van der Woude syndrome 2, Van der Woude syndrome 2
RS752673990 PKD1L1 Health Risk Pathogenic —
RS752674254 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS752674270 THOC6 Health Risk Likely pathogenic —
RS752674803 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome
RS752675360 FDXR Health Risk Likely pathogenic Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, Inborn genetic diseases
RS752676204 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS752676391 TRIO Health Risk Conflicting classifications of pathogenicity Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual disability
RS75267647 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS752677472 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS752677873 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752677964 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS752678074 PDHA1 Health Risk Conflicting classifications of pathogenicity See cases, Pyruvate dehydrogenase E1-alpha deficiency
RS752678337 TMC1 Health Risk Pathogenic —
RS752679178 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS752679968 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS752679988 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS752680756 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS752682807 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS752683070 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS752684703 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752685118 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma
RS752685166 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS752685614 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS752688322 LARS2 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 4, Perrault syndrome 4
RS752689001 PKP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752689011 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS752689148 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
RS752690286 LAMC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752690798 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS752692263 DNAH8 Health Risk Pathogenic Spermatogenic failure 46, Primary ciliary dyskinesia
RS752693719 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS752694306 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS752695673 PHF21A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75269586 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS752695991 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS752696414 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1A
RS752697861 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752698231 REEP2 Health Risk Likely pathogenic Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
RS752700351 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS752700398 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS752700457 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS752700668 APTX Health Risk Pathogenic —
RS752700752 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS752702755 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS752703914 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS752704782 FOXP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Childhood apraxia of speech
RS752706183 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS752706766 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752707110 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS752707578 PTPN23 Health Risk Pathogenic —
RS752707793 COASY Health Risk Pathogenic Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation
RS752708835 NPHP1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome with renal defect
RS752709238 CDC20 Health Risk Likely pathogenic Oocyte maturation defect 14, Clear cell carcinoma of kidney
RS752709426 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS752709977 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS752712305 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS752712345 POLG Health Risk Conflicting classifications of pathogenicity —
RS752712664 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS752712823 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS752713997 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS752714222 ILDR1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
RS752714698 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS752715398 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS752716057 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS752716582 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS752716704 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS752717878 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS752718686 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS752719190 TM4SF20 Health Risk Conflicting classifications of pathogenicity —
RS752720263 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group P
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