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
RS773306071 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS773306912 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS773306994 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS773307141 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS773308589 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773309064 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS773310063 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS77331026 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS773310944 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS773311381 WLS Health Risk Likely pathogenic WLS syndrome, Zaki syndrome
RS773311942 POGZ Health Risk Pathogenic/Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS773312108 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS773312598 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS773312950 KIRREL3 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS773313289 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ataxia-pancytopenia syndrome
RS773313492 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS773313892 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS773314411 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773314783 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS773315874 HNF1A Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS773315965 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS773316282 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773316940 PCNT Health Risk Pathogenic —
RS773316961 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS773317280 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS773317399 TCAP Health Risk Pathogenic Hypertrophic cardiomyopathy 25, Hypertrophic cardiomyopathy 25
RS77331749 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2/9, digenic
RS773317939 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Benign familial hematuria
RS773318145 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS773318451 CAPN3 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS773318505 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS773318837 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS773319640 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Charcot-Marie-Tooth disease axonal type 2O
RS773320398 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS773320492 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS773320625 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS773320949 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS773321516 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS773321774 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS773323079 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS773323734 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS773325186 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS773325406 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS773325665 CRPPA Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS773326317 ATP2A2 Health Risk Conflicting classifications of pathogenicity Keratosis follicularis, Inborn genetic diseases
RS773327091 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Intellectual disability
RS773327736 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases
RS773327749 TRRAP Health Risk Conflicting classifications of pathogenicity Developmental delay with or without dysmorphic facies and autism, Inborn genetic diseases
RS773328409 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS773328511 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS773329088 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS773330060 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Vici syndrome
RS773331795 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, Inborn genetic diseases
RS773332695 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS773333490 HPDL Health Risk Pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS773333879 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS773334179 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS773334722 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS773334730 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS773334784 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS773336059 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS773339124 SLC2A1 Health Risk Likely pathogenic Encephalopathy due to GLUT1 deficiency, Intellectual disability
RS773339611 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS773340677 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS773341615 COG1 Health Risk Pathogenic COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS773342435 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773343245 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS773343292 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS773343407 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS773343805 DNAH2 Health Risk Pathogenic Spermatogenic failure 45, Spermatogenic failure 45
RS77334447 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS77334581 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS773347338 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS773347530 KCND2 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS773348232 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS773350924 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS773351341 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS773351711 MYO1H Health Risk Pathogenic/Likely pathogenic Central hypoventilation syndrome, congenital
RS773351968 NFU1 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
RS77335374 ALB Health Risk Pathogenic Analbuminemia, Analbuminemia
RS773356478 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS773357590 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773357652 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS773357672 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS773357747 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS773358704 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS773358950 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS773359554 PGAP2 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS773359656 ERCC2 Health Risk Pathogenic/Likely pathogenic —
RS773360200 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis
RS773360881 MTHFR Health Risk Conflicting classifications of pathogenicity Neural tube defects, folate-sensitive
RS773361937 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS773362418 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS773363446 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS773363890 PRPF8 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 13, Retinitis pigmentosa 13
RS773364048 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS773364076 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773364996 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS773366454 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS773367009 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
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