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
RS575922741 FBN1 Health Risk Conflicting classifications of pathogenicity Stiff skin syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS575926270 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, KIT-related disorder
RS575928986 TET2 Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS575937427 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS575938861 DNAJB6 Health Risk Likely pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS575939045 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS575939496 USH2A Health Risk Conflicting classifications of pathogenicity —
RS575944941 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS575947038 KRT6C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS575957641 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS575958060 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS575959163 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS575962845 PEPD Health Risk Likely pathogenic —
RS575983927 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS57599352 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2B
RS575999145 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, TF-related disorder
RS576001667 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS576025689 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS576030298 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS576035669 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS576041742 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS576051028 ANKH Health Risk Conflicting classifications of pathogenicity Chondrocalcinosis 2, Craniometaphyseal dysplasia
RS576055272 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS576057388 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS57605939 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS576071932 GNAS Health Risk Conflicting classifications of pathogenicity Malignant tumor of esophagus, Familial cancer of breast
RS576073679 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS576076237 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS576076928 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS576080629 MAP3K1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 6
RS576081828 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS576091247 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS576096758 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS576099495 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS576108168 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576108341 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related disorder, Pierson syndrome
RS576118131 ADCY10 Health Risk Pathogenic —
RS576125279 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS576127046 STX1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 9
RS576130413 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS576139929 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS576141199 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS576156828 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS576163042 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS576171217 LIPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576172127 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS576175174 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS576176888 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS576180572 TUBB3 Health Risk Conflicting classifications of pathogenicity TUBB3-related disorder, TUBB3-related disorder
RS576187743 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS576190086 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS576193460 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS576198476 DCTN1 Health Risk Conflicting classifications of pathogenicity Perry syndrome, Amyotrophic lateral sclerosis type 1
RS576204286 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS576215366 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS576221121 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS576233044 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS576239597 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS576243101 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS576247658 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS576252504 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS576269342 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS576271894 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS576279166 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS576282835 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS576284122 IHH Health Risk Conflicting classifications of pathogenicity Brachydactyly type A1, Inborn genetic diseases
RS576284630 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS576293240 POLQ Health Risk Conflicting classifications of pathogenicity POLQ-related disorder, POLQ-related disorder
RS57629361 LMNA Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS576298659 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel-Gruber syndrome
RS57629991 KRT6A Health Risk Pathogenic/Likely pathogenic —
RS576300014 VSX1 Health Risk Conflicting classifications of pathogenicity Posterior polymorphous corneal dystrophy, Craniofacial anomalies and anterior segment dysgenesis syndrome
RS576303132 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS576303662 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS576304398 TMEM80 Health Risk Conflicting classifications of pathogenicity —
RS576315457 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Juvenile nephropathic cystinosis
RS576320358 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576323709 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS576324046 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS576330538 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS576332528 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS576340695 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS576359448 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS576369528 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS576373730 RBP3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS576374797 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS576383569 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS576395584 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS576399072 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS576399709 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX6-related disorder
RS57639980 DES Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS576401026 OTOF Health Risk Conflicting classifications of pathogenicity —
RS576401425 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS576404380 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS576411922 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS576429729 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576430165 NDUFAF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS576431612 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS576434469 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS576445739 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, Macular corneal dystrophy
« Prev 1 ... 2979 2980 2981 2982 2983 2984 2985 ... 4509 Next »

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

Get Started Free →