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
RS372931505 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS372931895 STRA6 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS372932575 SLC24A5 Health Risk Pathogenic/Likely pathogenic —
RS372933126 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS372933587 MYO18B Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS372934565 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS372935423 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS372935580 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS372935996 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS372937480 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Inborn genetic diseases
RS372938259 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS372938477 LRP2 Health Risk Pathogenic/Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS372939044 MYO18B Health Risk Pathogenic —
RS372939605 GPAA1 Health Risk Pathogenic/Likely pathogenic GPAA1-related disorder, GPAA1-related disorder
RS372939622 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS372939761 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS372939794 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS372939905 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS372940610 FLNB Health Risk Likely pathogenic Larsen syndrome, Larsen syndrome
RS372940792 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372940918 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS372941705 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS372941709 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS372942015 PKD1L3 Health Risk Conflicting classifications of pathogenicity —
RS372942165 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS372942259 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS372943622 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372945746 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS372946484 ADGRA3 Health Risk Conflicting classifications of pathogenicity —
RS372946517 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, PDE4D-related disorder
RS372946560 NTHL1 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS372947059 CALM2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Cardiovascular phenotype
RS372947070 CELA2A Health Risk Pathogenic Coronary artery disorder, Hypertriglyceridemia
RS372947142 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS372947820 ASCC3 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 81
RS372948989 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Inflammatory skin and bowel disease
RS372949000 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS372949028 TANGO2 Health Risk Pathogenic Intellectual disability, Acute rhabdomyolysis
RS372949456 VPS13B Health Risk Pathogenic —
RS372949783 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS372950672 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS372950890 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS372952479 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372953205 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS372953250 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS372953477 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS372953537 PDE3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PDE3A-related disorder
RS372953726 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372954109 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS372955218 KPTN Health Risk Conflicting classifications of pathogenicity Macrocephaly-developmental delay syndrome, Inborn genetic diseases
RS372955658 TTC12 Health Risk Pathogenic Ciliary dyskinesia, primary
RS372956200 LAMA2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS372956932 SCNN1A Health Risk Pathogenic Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3
RS372959912 LRRC56 Health Risk Pathogenic Ciliary dyskinesia, primary
RS372960797 MAPKAPK3 Health Risk Conflicting classifications of pathogenicity —
RS372963310 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS372963343 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS372963832 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372963982 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS372964069 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS372964579 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS3729659 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS3729660 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS372966682 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS372966951 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS372966991 GLA;HNRNPH2;RPL36A-HNRNPH2 Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS372967537 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Cardiovascular phenotype
RS372967646 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS372968576 C8B Health Risk Pathogenic Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS372968732 TTN Health Risk Conflicting classifications of pathogenicity —
RS372969054 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS372970620 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS372970635 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS372970828 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Sick sinus syndrome 1
RS372970842 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS3729711 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS3729712 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS372971566 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS372971671 EPHB4 Health Risk Conflicting classifications of pathogenicity —
RS3729732 LIFR Health Risk Conflicting classifications of pathogenicity Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS372973682 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS372974399 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS372974717 EBP Health Risk Pathogenic/Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS3729751 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Congenital anomaly of kidney and urinary tract
RS3729754 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS372976742 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinitis pigmentosa
RS372977009 SKIC2 Health Risk Pathogenic —
RS372979075 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS372979339 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS372980573 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS372980930 ANLN Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 8, ANLN-related disorder
RS372981030 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS372981316 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS372982681 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS3729831 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS372983141 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS372983350 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS3729841 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS372984423 LMNB1 Health Risk Conflicting classifications of pathogenicity —
RS372984801 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
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