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
RS370412074 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS370414054 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS370414354 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS370414767 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS370415166 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370415754 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS370418677 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370420341 RECQL Health Risk Conflicting classifications of pathogenicity —
RS370421531 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS370421580 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS370421723 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS370422066 ABCG8 Health Risk Pathogenic —
RS370422650 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS370422990 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS370423096 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS370423608 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370424081 UNC45B Health Risk Pathogenic Cataract 43, Cataract 43
RS370424312 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS370426309 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS370426490 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS370426974 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS370427146 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS370428032 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS370428679 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 20
RS370428859 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS370428918 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS370429316 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS370431009 WDR4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370432175 PHKA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370432385 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome
RS370432537 NAA15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NAA15-related disorder
RS370432538 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS370432633 BCL10 Health Risk Pathogenic Malignant tumor of testis, Malignant tumor of testis
RS370433085 PITX1 Health Risk Conflicting classifications of pathogenicity Clubfoot, Clubfoot
RS370433763 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS370434411 PLXNA1 Health Risk Conflicting classifications of pathogenicity PLXNA1-related disorder, PLXNA1-related disorder
RS370434427 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS370434508 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370434906 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS370435082 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS370436157 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS370436662 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS370436680 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS370438420 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiac arrhythmia
RS370438426 SLC10A2 Health Risk Conflicting classifications of pathogenicity Bile acid malabsorption, primary
RS370438593 EVC2 Health Risk Pathogenic —
RS370438666 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS370439294 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS370441301 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS370443558 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS370444838 MTHFD1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Severe combined immunodeficiency disease
RS370445231 TERT Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Dyskeratosis congenita
RS370446082 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS370447404 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS370450076 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder
RS370450171 SCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370450339 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370450877 WDR4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370453137 PRPS1 Health Risk Conflicting classifications of pathogenicity Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome
RS370453371 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, FUCA1-related disorder
RS370453487 POP1 Health Risk Conflicting classifications of pathogenicity —
RS370453956 SERPINB6 Health Risk Conflicting classifications of pathogenicity —
RS370454085 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS370454709 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Cerebrooculofacioskeletal syndrome 2
RS370454753 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS370455197 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS370455274 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS370455806 TMX2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, cortical malformations
RS370456073 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity —
RS370456245 ZFPM2 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 9
RS370456436 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS370457228 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370457498 PJVK Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS370457959 CNOT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370458245 C1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370458679 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS370458957 COMP Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS370459176 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS370459675 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS370459859 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, SLC12A1-related disorder
RS370460433 AP1S1 Health Risk Pathogenic —
RS370462053 WNT10A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS370462522 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS370463792 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS370463938 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370464321 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS370464756 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS370464857 GCK Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS370465436 VEGFC Health Risk Conflicting classifications of pathogenicity —
RS370465458 MID1 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, Inborn genetic diseases
RS370468314 DHH Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 7
RS370469515 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS370469675 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS370470226 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS370470902 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS370471092 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS370471177 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS370471203 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS370471937 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS370472530 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
« Prev 1 ... 2659 2660 2661 2662 2663 2664 2665 ... 4509 Next »

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

Get Started Free →