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
RS375462934 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, CREBBP-related disorder
RS375463904 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS375465011 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS375465342 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS375465590 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS375466678 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS375466838 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS375468032 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS375468899 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS375469069 NR5A1 Health Risk Pathogenic/Likely pathogenic 46, XY sex reversal 3
RS375469296 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 4
RS375470066 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS375470378 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS375470385 TMIE Health Risk Conflicting classifications of pathogenicity —
RS375471249 COL13A1 Health Risk Likely pathogenic —
RS375471342 PKLR Health Risk Conflicting classifications of pathogenicity —
RS375471570 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS375472517 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS375473823 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS375474222 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS375474669 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375475050 PDK3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
RS375476174 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS375476463 TMEM260 Health Risk Pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS375476506 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS375476655 FREM1 Health Risk Conflicting classifications of pathogenicity BNAR syndrome, Trigonocephaly 2
RS375477247 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS375477517 COL4A1 Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS375478086 SPTB Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 2, SPTB-related disorder
RS375478525 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS375479262 ANO10 Health Risk Pathogenic/Likely pathogenic —
RS375480365 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS375482256 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, POT1-related disorder
RS375482798 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2
RS375483605 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS375483786 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS375484585 TBX20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS375484982 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS375485030 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS375485062 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS375485376 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375485412 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS375486386 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome 1
RS375486513 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375486960 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS375486999 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375487064 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS375488219 PID1 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS375489890 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS375490876 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS375491089 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS375491094 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS375492899 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Inborn genetic diseases
RS375493384 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS375493957 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS375494943 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, CNGA3-related disorder
RS375495026 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS375495050 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS375495390 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS375495397 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS375496148 SUCO Health Risk Conflicting classifications of pathogenicity —
RS375497206 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS375497733 ZFYVE19 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS375498642 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS375499259 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS375500585 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS375500620 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS375500787 RPS10 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9
RS375501114 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS375501508 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS375502236 MICU1 Health Risk Pathogenic/Likely pathogenic Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS375503109 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS375503292 ALX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Frontorhiny
RS375503410 FLNA Health Risk Likely pathogenic FLNA related lung disease, FLNA related lung disease
RS375504464 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS375506528 SPTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spherocytosis type 3
RS375507062 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS375507937 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS375507981 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS375507992 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375508574 PHYH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS375508949 RHAG Health Risk Pathogenic/Likely pathogenic Rh-null, regulator type
RS375509312 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS375510570 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Autosomal dominant nonsyndromic hearing loss 11
RS375510818 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS375510822 RTTN Health Risk Pathogenic —
RS375511356 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS375512235 GFM1 Health Risk Conflicting classifications of pathogenicity —
RS375513978 TONSL Health Risk Likely pathogenic —
RS375514450 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS375515095 SAMD9 Health Risk Conflicting classifications of pathogenicity Normophosphatemic familial tumoral calcinosis, SAMD9-related disorder
RS375515128 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS375515606 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS375516507 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS375516745 LMNA Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type A lipodystrophy, Emery-Dreifuss muscular dystrophy
RS375516973 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS375517001 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS375518094 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS375519490 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS375519815 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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