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
RS374670754 MYOM1 Health Risk Conflicting classifications of pathogenicity Abnormality of the liver, Hypoglycemia
RS374670875 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS374672041 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS374672276 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS374672630 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374672854 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS374672916 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS374673302 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS374673335 GLE1 Health Risk Pathogenic/Likely pathogenic Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
RS374673391 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS374673836 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS374673921 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, AP5Z1-related disorder
RS374673974 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS374674165 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS374675648 HTRA1 Health Risk Conflicting classifications of pathogenicity Macular degeneration, Macular degeneration
RS374677022 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital myopathy
RS374677194 SERPINF1 Health Risk Pathogenic —
RS374677519 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS374680668 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS374681194 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS374681570 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS374682222 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS374682395 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS374683078 HCFC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria
RS374683153 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374683235 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS374684032 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS374685631 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS374685632 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS374685908 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS374686347 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS374686479 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Migraine
RS374686904 FLNB Health Risk Conflicting classifications of pathogenicity —
RS374687883 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS374688294 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS374688464 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS374688634 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS374689398 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS374689888 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS374690853 EFEMP1 Health Risk Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy
RS374690894 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Nephronophthisis
RS374690916 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS374691049 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS374691153 PTCH1 Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Gorlin syndrome
RS374691339 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS374691587 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS374692105 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS374692260 PDE8B Health Risk Conflicting classifications of pathogenicity Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
RS374692915 SLC26A2 Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type II, Sulfate transporter-related osteochondrodysplasia
RS374693929 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS374694909 HSPD1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS374695099 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374695194 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS374697328 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS374697567 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Inborn genetic diseases
RS374698153 PNPT1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 13, Inborn genetic diseases
RS374698559 CNNM4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374698863 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS374699130 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS374699716 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS374700234 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS374700658 HOXD10 Health Risk Conflicting classifications of pathogenicity Congenital vertical talus, Congenital vertical talus
RS374701055 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS374701109 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS374701362 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS374702278 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS374702599 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, SLC2A2-related disorder
RS374703179 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS374703898 CSPP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS374704368 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS374704486 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS374704824 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS374705585 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS374705823 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS374707420 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS374707462 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS374707677 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS374708033 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS374709083 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS374709193 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS374709763 COASY Health Risk Pathogenic Neurodegeneration with brain iron accumulation 6, COASY-Related Disorders
RS374710242 POP1 Health Risk Pathogenic —
RS374712231 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS374712759 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS3747131 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS374713901 C4B Health Risk Conflicting classifications of pathogenicity —
RS374713915 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS374714172 ANKRD11 Health Risk Conflicting classifications of pathogenicity ANKRD11-related disorder, KBG syndrome
RS374714909 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS374715276 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS374716181 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS374716369 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS374717754 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS374718437 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS374718674 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS374718902 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS374719323 PLD1 Health Risk Likely pathogenic Cardiac valvular defect, developmental
RS374720181 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Inborn genetic diseases
RS374720207 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS374720304 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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