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
RS138045779 CEP135 Health Risk Conflicting classifications of pathogenicity —
RS138046782 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS138046898 PTPRN2 Health Risk Conflicting classifications of pathogenicity —
RS138047529 AVIL Health Risk Likely pathogenic Nephrotic syndrome, type 21
RS138047593 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS138047705 PIK3AP1 Health Risk Conflicting classifications of pathogenicity Infantile spasms, Infantile spasms
RS1380478280 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1380480578 STARD9 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1380480846 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder
RS138048269 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS138048478 MYBPC1 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS138048706 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11
RS1380487514 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS138049094 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1380491347 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS138049198 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1380492295 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS138049593 TNC Health Risk Conflicting classifications of pathogenicity TNC-related disorder, TNC-related disorder
RS138049763 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS138049878 MYH7 Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS138050767 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS1380513950 MTRFR Health Risk Pathogenic Combined oxidative phosphorylation defect type 7, Spastic paraplegia
RS138051424 CARD8 Health Risk Conflicting classifications of pathogenicity CARD8-related disorder, CARD8-related disorder
RS1380514288 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS138052297 SCLT1 Health Risk Pathogenic —
RS1380525804 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS138052637 SLC20A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138052931 EDAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS138053929 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS138054675 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
RS138055271 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS1380555031 PTPN11 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS138056036 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS138056193 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1380574195 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS138057813 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS138058572 ACADVL Health Risk Likely pathogenic Myopathy, Rhabdomyolysis
RS138058578 HEXA Health Risk Conflicting classifications of pathogenicity; other Tay-Sachs disease, Tay-Sachs disease
RS138058871 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138058889 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1380589911 ALDH5A1 Health Risk Pathogenic/Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases
RS138059405 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS138060032 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS138060208 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS138060421 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138061928 FOXRED1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS1380619480 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS138061993 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS1380626543 SLC12A1 Health Risk Conflicting classifications of pathogenicity SLC12A1-related disorder, Inborn genetic diseases
RS1380632698 DUOX2 Health Risk Pathogenic —
RS138063386 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1380635081 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS1380642629 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1380643285 FREM1 Health Risk Likely pathogenic Oculotrichoanal syndrome, BNAR syndrome
RS138064523 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS138064925 MYH8 Health Risk Conflicting classifications of pathogenicity —
RS138065338 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS138065384 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS1380657206 BRCA1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1380657460 WEE2 Health Risk Pathogenic Oocyte maturation defect 5, Oocyte maturation defect 5
RS1380661508 CLRN1 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Retinitis pigmentosa 61
RS138066507 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS138068023 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS138068434 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, INPP5E-related disorder
RS1380684360 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1380686004 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS138068754 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS138068984 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS138069275 ERCC6L2 Health Risk Pathogenic/Likely pathogenic —
RS138070052 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS138070234 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS1380703248 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS138070585 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS138070797 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS138070947 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS138071140 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS138072045 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Inborn genetic diseases
RS138072432 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2A2
RS1380726444 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS138072724 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS138073466 TUBA8 Health Risk Conflicting classifications of pathogenicity TUBA8-related disorder, TUBA8-related disorder
RS138073935 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS138075372 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Inborn genetic diseases
RS138075452 VWA8 Health Risk Conflicting classifications of pathogenicity Nonsyndromic cleft lip palate, Retinitis pigmentosa 97
RS138076014 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS138076523 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS138077430 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS138079168 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1380792392 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1380793724 TEK Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS1380800547 DNAH9 Health Risk Pathogenic —
RS1380808560 TGM1 Health Risk Pathogenic —
RS138081800 UPB1 Health Risk Pathogenic/Likely pathogenic Deficiency of beta-ureidopropionase, Inborn genetic diseases
RS138081804 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2N
RS1380822792 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS138082392 ZNF526 Health Risk Conflicting classifications of pathogenicity ZNF526-related disorder, ZNF526-related disorder
RS1380833875 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases
RS1380839164 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1380843831 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS1380847972 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
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