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
RS768090632 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS768091235 TLR3 Health Risk risk factor Immunodeficiency 83, susceptibility to viral infections
RS768091555 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS768091663 PINK1-AS;MIR6084;PINK1 Health Risk Pathogenic/Likely pathogenic PINK1-Related Parkinsonism, Autosomal recessive early-onset Parkinson disease 6
RS768092083 ZNF335 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to ZNF335 deficiency, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS768092887 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS768093045 MC2R Health Risk Likely pathogenic —
RS768093553 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS768095044 SLC5A2 Health Risk Pathogenic/Likely pathogenic SLC5A2-related disorder, Familial renal glucosuria
RS768095251 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS768095444 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768095469 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS768097461 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS768097716 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Rubinstein-Taybi syndrome
RS768097820 USH2A Health Risk Likely pathogenic —
RS768098854 CYP4F22 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis
RS768099247 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS768099905 ADAMTSL4 Health Risk Pathogenic —
RS768100265 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS768100377 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Rubinstein-Taybi syndrome
RS768100538 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS768102065 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS768102862 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS768103657 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS768106280 DNAH9 Health Risk Likely pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS768106454 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768106492 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768106519 ABCC6 Health Risk Conflicting classifications of pathogenicity ABCC6-related disorder, ABCC6-related disorder
RS768106524 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS768107603 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS768107851 PNPLA6 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Hereditary spastic paraplegia 39
RS768109346 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS76811038 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS768110640 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS768112611 GFM1 Health Risk Pathogenic/Likely pathogenic See cases, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS768114082 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768117011 OPTN Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS768117100 USH2A Health Risk Likely pathogenic —
RS76811720 SPEG Health Risk Conflicting classifications of pathogenicity SPEG-related disorder, Inborn genetic diseases
RS768117202 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS768119034 CLCN1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant intermediate Charcot-Marie-Tooth disease, Congenital myotonia
RS768119795 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768123840 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS768124745 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS768125521 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS768126003 PUS1 Health Risk Pathogenic —
RS768126403 EDNRB Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 4A, Waardenburg syndrome type 4A
RS768126695 PPM1D Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS768128088 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica inversa
RS768128481 LPL Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS768129470 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768129542 ABCA4 Health Risk Pathogenic Retinitis pigmentosa 19, Retinitis pigmentosa 19
RS768130289 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS768130937 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Ichthyosis
RS768131084 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Holoprosencephaly 11
RS768131119 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS768131466 SKIC2 Health Risk Pathogenic —
RS768131676 NGLY1 Health Risk Pathogenic Inborn genetic diseases, Congenital disorder of deglycosylation
RS768132465 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS768134426 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS768136171 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
RS768137500 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS768139689 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS768140376 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS768140716 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS768141462 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS768141716 KMT2E Health Risk Conflicting classifications of pathogenicity O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS768141777 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS768141871 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS768142579 FHL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, X-linked myopathy with postural muscle atrophy
RS768143170 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS768143929 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS768144106 ACTA1 Health Risk Likely pathogenic Congenital muscular dystrophy with rigid spine, Congenital myopathy 2b
RS768144352 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS768144522 POMT1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS768146409 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS768146588 KITLG Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 69, Autosomal dominant nonsyndromic hearing loss 69
RS768146888 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS768148483 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS768149852 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS768149947 DBH Health Risk Pathogenic Orthostatic hypotension 1, Orthostatic hypotension 1
RS768150344 CLCN4 Health Risk Pathogenic —
RS768150787 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS768151492 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS768152581 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS768152792 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS768153615 PYROXD1 Health Risk Likely pathogenic —
RS768153649 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768154316 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS768154511 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS768155224 POU1F1 Health Risk Likely pathogenic —
RS768155534 RNF212 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 62, Spermatogenic failure 62
RS768156400 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768157473 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS768157788 CYP19A1 Health Risk Likely pathogenic Aromatase deficiency, Aromatase excess syndrome
RS768158324 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS768158580 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS768160006 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS768160441 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768161038 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
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