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
RS2086699971 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2086712268 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS2086712337 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS2086712538 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2086712682 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS2086730156 PRMT7 Health Risk Likely pathogenic —
RS2086763634 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2086765953 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086767947 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086772786 PEX16 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2086777094 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086778829 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2086784918 PCNT Health Risk Pathogenic —
RS2086784990 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, ATM-related disorder
RS2086789644 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086793763 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086794191 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2086795898 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086800136 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086801267 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086805219 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS2086806957 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS2086807269 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2086814554 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2086815766 PRKAR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney complex
RS2086819893 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2086819957 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2086826069 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086840439 PCNT Health Risk Likely pathogenic —
RS2086855300 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2086862509 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS2086865333 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2086865732 B2M Health Risk Pathogenic Hypoproteinemia, hypercatabolic
RS2086865775 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS2086875746 FCHO1 Health Risk Pathogenic Severe congenital neutropenia, Immunodeficiency 76
RS2086878882 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2086880392 SMARCA4 Health Risk Likely pathogenic Intellectual disability, Autistic behavior
RS2086887013 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2086888561 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2086892010 FANCD2 Health Risk Likely pathogenic —
RS2086917516 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2086918352 FANCD2 Health Risk Pathogenic/Likely pathogenic FANCD2-related disorder, Fanconi anemia
RS2086920799 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2086921262 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2086970259 DNAH17 Health Risk Likely pathogenic DNAH17-related disorder, DNAH17-related disorder
RS2086991061 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS2086993116 IDH3B Health Risk Pathogenic —
RS2087004754 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS2087008432 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2087013746 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2087026946 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2087028639 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2087029320 SMARCA4 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2087030906 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS2087032456 TSC2 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS2087033635 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2087036788 PCNT Health Risk Pathogenic —
RS2087041072 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2087063244 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS2087073639 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2087101244 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS2087109946 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2087125303 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2087129514 FANCD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2087133817 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2087135251 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2087144643 LTBP2 Health Risk Likely pathogenic —
RS2087146072 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2087167387 MYO18B Health Risk Pathogenic/Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS2087183662 PLA2G6 Health Risk Conflicting classifications of pathogenicity —
RS2087184707 PLA2G6 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation, Infantile neuroaxonal dystrophy
RS2087187562 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2087209471 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2087215071 CHAMP1 Health Risk Pathogenic —
RS2087224465 TSC2 Health Risk Pathogenic —
RS2087230045 CHAMP1 Health Risk Pathogenic —
RS2087230941 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2087233948 CHAMP1 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS2087240702 CHAMP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 40
RS2087242404 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2087243806 CHAMP1 Health Risk Pathogenic —
RS2087247418 FANCD2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Fanconi anemia
RS2087297703 IL21R Health Risk Likely pathogenic Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Cryptosporidiosis-chronic cholangitis-liver disease syndrome
RS2087377266 DLG3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2087391194 ZIC1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2087395615 DNAAF1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2087399510 ZIC1 Health Risk Likely pathogenic Craniosynostosis 6, Craniosynostosis 6
RS2087444941 IL21R Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2087478227 PLA2G6 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 2B
RS2087482291 DYM Health Risk Pathogenic/Likely pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2087484070 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2087496511 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2087498329 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2087501886 DYM Health Risk Likely pathogenic —
RS2087501902 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS2087504321 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2087528394 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2087532435 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2087564577 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2087565101 PCNT Health Risk Pathogenic —
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