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
RS374273151 TRMT1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal recessive 68
RS374273620 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS374274442 RTTN Health Risk Likely pathogenic —
RS374274692 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS374275215 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS374277541 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS374280470 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS374281025 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374281831 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS374282596 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374283437 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS374283517 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS374283590 WAS Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS374285356 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374285374 RTTN Health Risk Conflicting classifications of pathogenicity —
RS374286033 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Inborn genetic diseases
RS374286713 SYNE1 Health Risk Likely pathogenic —
RS374286965 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Episodic ataxia type 2
RS374287774 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS374288379 ETFB Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS374288437 CDH15 Health Risk Conflicting classifications of pathogenicity CDH15-related disorder, Intellectual disability
RS374288519 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS374289757 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Greenberg dysplasia
RS374290931 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS374290942 KAT6A Health Risk Pathogenic —
RS374292194 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS374293292 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS374294752 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS374295768 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374295965 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Oto-palato-digital syndrome
RS374296728 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS374297649 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS374297725 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS374297889 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS374298000 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS374298314 KPTN Health Risk Pathogenic Macrocephaly-developmental delay syndrome, Inborn genetic diseases
RS374299043 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS374299350 RNU4ATAC Health Risk Likely pathogenic Osteodysplastic primordial dwarfism, type 1
RS374299843 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS374299911 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS374300007 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRAPPC9-related disorder
RS374300652 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS374300895 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Schinzel-Giedion syndrome
RS374302531 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS374302753 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS374303102 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS374303355 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Gait ataxia
RS374303576 SLC12A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS374303737 TUBB1 Health Risk Conflicting classifications of pathogenicity —
RS374303746 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, PHGDH deficiency
RS374303823 KRIT1 Health Risk Likely pathogenic —
RS374304304 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS374304814 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS374304979 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS374306538 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS374306700 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
RS374306837 HNF1A Health Risk Conflicting classifications of pathogenicity 6 conditions, Maturity-onset diabetes of the young
RS374307014 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS374307163 DOCK6 Health Risk Conflicting classifications of pathogenicity —
RS3743088 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS374308904 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, UNC13D-related disorder
RS374309472 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS374309697 GBA2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS374310569 TNFRSF11A Health Risk Conflicting classifications of pathogenicity —
RS374311778 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS374312091 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS374312736 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS374313094 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS374314919 RPS10;RPS10-NUDT3 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 9, Diamond-Blackfan anemia
RS374315114 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS374315921 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS374316682 EPB41 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 1, Elliptocytosis 1
RS374317179 ACAD8 Health Risk Pathogenic/Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS374319146 TBCK Health Risk Pathogenic 6 conditions, Hypotonia
RS374321183 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS374321381 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS374322039 HSPD1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hypomyelinating leukodystrophy 4
RS374322367 TMEM63A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leukodystrophy
RS374322406 KATNIP Health Risk Conflicting classifications of pathogenicity —
RS374322635 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS374322839 OSGEP Health Risk Likely pathogenic Galloway-Mowat syndrome 3, Inborn genetic diseases
RS374323457 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374324018 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS374324793 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS374325589 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS374326029 CTNNA1 Health Risk Conflicting classifications of pathogenicity —
RS374326087 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS374327791 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS374328447 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome 2
RS374328858 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS374329989 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS374331057 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS374332166 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374333820 IKZF1 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Pancytopenia due to IKZF1 mutations
RS374334794 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS374335271 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS374335608 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS374335683 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS374335905 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS374336458 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
« Prev 1 ... 2726 2727 2728 2729 2730 2731 2732 ... 4509 Next »

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

Get Started Free →