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
RS28941769 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS28941770 HEXA Health Risk Likely pathogenic Tay-Sachs disease, B1 variant
RS28941771 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS28941773 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS28941774 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS28941775 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS28941776 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS28941777 WT1 Health Risk Pathogenic Nephrotic syndrome, type 4
RS28941778 WT1 Health Risk Pathogenic/Likely pathogenic Drash syndrome, Nephrotic syndrome
RS28941779 WT1 Health Risk Pathogenic Frasier syndrome, Frasier syndrome
RS28941780 CRELD1 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect, partial
RS28941781 TMIE Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
RS28941782 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS28941783 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS28941784 MMAB Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
RS28941785 CTH Health Risk Conflicting classifications of pathogenicity Cystathioninuria, CTH-related disorder
RS28941786 CTH Health Risk Pathogenic Cystathioninuria, Cystathioninuria
RS28942068 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS28942071 HEXA Health Risk Pathogenic/Likely pathogenic GM2-GANGLIOSIDOSIS, CHRONIC
RS28942072 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS28942073 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, juvenile form
RS28942074 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS28942075 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS28942076 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS28942077 LYST Health Risk Pathogenic CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
RS28942078 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS28942079 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS28942080 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS28942081 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS28942082 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS28942083 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS28942084 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS28942085 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS28942087 LCAT Health Risk Pathogenic LCAT deficiency, LCAT deficiency
RS28942089 WT1 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 4
RS28942090 ALG12 Health Risk Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS28942093 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS28942094 IRF6 Health Risk Pathogenic/Likely pathogenic Van der Woude syndrome 1, Cleft palate
RS28942095 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome
RS28942096 TMIE Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 6, Hearing loss
RS28942097 TMIE Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 6, Hearing loss
RS28942098 CDC73 Health Risk Pathogenic Hyperparathyroidism 2 with jaw tumors, Parathyroid carcinoma
RS28942100 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS28942103 ATM Health Risk Likely pathogenic Ataxia - telangiectasia variant, Ataxia-telangiectasia syndrome
RS28942104 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS28942105 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS28942106 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS28942107 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS28942108 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS28942109 SAR1B Health Risk Pathogenic/Likely pathogenic Chylomicron retention disease, Chylomicron retention disease
RS28942110 SAR1B Health Risk Pathogenic/Likely pathogenic Chylomicron retention disease, SAR1B-related disorder
RS28942111 PCSK9 Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS28942112 PCSK9 Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS28943590 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS28945070 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, MASP1-related disorder
RS28954113 LEP Health Risk Likely pathogenic LEP-related disorder, LEP-related disorder
RS2896226 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS28969501 GP6 Health Risk Conflicting classifications of pathogenicity GP6-related disorder, Gastric cancer
RS28986463 CACNA1S Health Risk risk factor Thyrotoxic periodic paralysis, susceptibility to
RS28989182 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Premature chromatid separation trait
RS28989183 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Premature chromatid separation trait
RS28989186 BUB1B Health Risk Pathogenic/Likely pathogenic Mosaic variegated aneuploidy syndrome 1, Premature chromatid separation trait
RS28991292 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS2899472 CYP19A1 Health Risk association Pulmonary disease, chronic obstructive
RS28997569 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS28997570 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS28997571 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS28997573 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS28999110 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS28999111 ACTG1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20
RS28999112 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS28999113 APRT Health Risk Pathogenic APRT deficiency, Japanese type
RS28999114 SLC25A4 Health Risk Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
RS28999969 THRB Health Risk Conflicting classifications of pathogenicity Thyroid hormone resistance, generalized
RS28999970 THRB Health Risk Conflicting classifications of pathogenicity Generalized resistance to thyroid hormone, Thyroid hormone resistance
RS28999971 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS29000285 RRM2B Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RS29001566 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS29001571 HSPB1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS29001584 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS29001637 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS29001653 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS29001665 SETX Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS29001685 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2904551 PRODH Health Risk Conflicting classifications of pathogenicity Schizophrenia 4, Proline dehydrogenase deficiency
RS2904552 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS2912840 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS2915791 STRC Health Risk Conflicting classifications of pathogenicity STRC-related disorder, STRC-related disorder
RS2918520 ZNF717 Health Risk Pathogenic Susceptibility to severe coronavirus disease (COVID-19), Susceptibility to severe coronavirus disease (COVID-19)
RS2919408 KCNB2 Health Risk risk factor Colorectal cancer, Colorectal cancer
RS2920791 STRC Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 16, STRC-related disorder
RS29372 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS2959650 RASGRP2 Health Risk Likely pathogenic Abnormal platelet aggregation, Abnormal platelet aggregation
RS2959656 MEN1 Health Risk Conflicting classifications of pathogenicity Primary hyperparathyroidism, Multiple endocrine neoplasia
RS2969929 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS2969930 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS2975760 CAPN10 Health Risk risk factor Type 2 diabetes mellitus 1, susceptibility to
RS298 LPL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2985688 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS2986576 ATAD3A Health Risk Conflicting classifications of pathogenicity —
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