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
RS369450642 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Cataract 41
RS369450669 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to
RS369451049 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4
RS369451569 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS369452046 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS369452147 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS369453319 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS369453731 TRIOBP Health Risk Conflicting classifications of pathogenicity TRIOBP-related disorder, Inborn genetic diseases
RS369454305 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS369455386 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS369456138 POP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369456343 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS369456858 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS369457143 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS369457219 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Syndromic intellectual disability
RS369457426 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS369457922 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS369458206 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS369459721 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Intellectual disability
RS369459749 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Inborn genetic diseases
RS369459846 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS369460086 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Familial cancer of breast
RS369460632 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369461189 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS369461881 RDH5 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS369463541 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS369463720 EPM2A Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Lafora disease
RS369464237 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS369465821 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Inborn genetic diseases
RS369466037 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS369466056 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS369466234 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS369466385 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS369466418 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS369466577 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS369467132 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS369467143 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, SPG11-related disorder
RS369467661 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS369467944 TMEM126A Health Risk Conflicting classifications of pathogenicity —
RS369468997 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369469017 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS369470593 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS369471815 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS369471907 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS369472089 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS369472561 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS369472585 STARD9 Health Risk Conflicting classifications of pathogenicity —
RS369473273 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Arthrogryposis
RS369473481 P2RX2 Health Risk Conflicting classifications of pathogenicity —
RS369474500 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS369475886 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS369476391 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369476725 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369476930 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS369477886 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369478194 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369478532 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS369479687 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS369481117 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS369482721 DSP Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS369483167 CEP83 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 18, Nephronophthisis 18
RS369483452 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS369484186 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness, Congenital stationary night blindness
RS369484751 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS369486176 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS369486891 NEXN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS369488112 B9D1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 27
RS369488210 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS369488349 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS369488804 VMA12 Health Risk Likely pathogenic Congenital disorders of glycosylation type II, TMEM199-CDG
RS369489095 DSG2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS369489185 ADAMTS17 Health Risk Pathogenic Anterior segment dysgenesis, Anterior segment dysgenesis
RS369489756 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS369490217 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, GABRD-related disorder
RS369490861 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS369491525 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS369491695 MRPL44 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369491865 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS369492404 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS369492789 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS369493147 IFT140 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome
RS369493270 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS369493667 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Autosomal dominant nonsyndromic hearing loss 11
RS369494682 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS369494693 RXYLT1 Health Risk Likely pathogenic —
RS369494910 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS369496057 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS369496377 CFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hemolytic uremic syndrome
RS369497122 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS369497718 SBF1 Health Risk Pathogenic —
RS369497741 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369498554 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS369498574 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS369498603 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS369499148 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS369500791 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS369501428 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS369502091 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS369502177 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS369502542 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
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