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
RS769297158 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS769297468 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS769297492 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769297575 LIG4 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency
RS769297582 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS769298254 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS769298304 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS769299264 AIFM1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
RS769300208 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS769301934 NHLRC1 Health Risk Pathogenic/Likely pathogenic Lafora disease, Inborn genetic diseases
RS769303670 UBE2T Health Risk Pathogenic —
RS769304001 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769305771 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS769308213 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769308417 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS769308621 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS769308802 SMARCA4 Health Risk Pathogenic/Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS769309428 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS769310036 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, Inborn genetic diseases
RS769310764 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS769311004 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS769311346 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2O
RS769311670 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769312182 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769312894 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS769313068 GLE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769313336 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS769313989 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS769315133 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769315900 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS769317754 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 13, Retinitis pigmentosa
RS769317780 TRNT1 Health Risk Pathogenic/Likely pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinal dystrophy
RS769318035 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS769318570 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS769318609 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Proteinuria
RS769319202 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS769320596 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy
RS769320860 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS769321217 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769322005 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS769322016 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS769322487 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769322538 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS769322588 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769323549 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769323553 HOXB13 Health Risk Conflicting classifications of pathogenicity Prostate cancer, hereditary
RS769323757 ABCA1 Health Risk Pathogenic —
RS769325755 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS769327864 LZTFL1 Health Risk Pathogenic —
RS769328932 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pierson syndrome
RS769329045 WDR19 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS769329153 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS769329430 COL11A1 Health Risk Conflicting classifications of pathogenicity Intervertebral disc disorder, Marshall syndrome
RS769329817 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS769329948 MSX2 Health Risk Conflicting classifications of pathogenicity Craniosynostosis 2, Parietal foramina 1
RS769330358 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS769331400 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS769331677 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS769331772 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS769331823 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Inborn genetic diseases
RS769332983 CDC45 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769333468 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS769334090 PPP2R1A Health Risk Conflicting classifications of pathogenicity —
RS769335170 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS769335936 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS769338089 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS769338697 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS769342382 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS769342968 MC4R Health Risk Pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS769343491 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769343676 TTR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS769345284 NEB Health Risk Pathogenic/Likely pathogenic Non-immune hydrops fetalis, Nemaline myopathy 2
RS769345390 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769345522 CUL7 Health Risk Likely pathogenic —
RS769345523 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769346219 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS769346541 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS769346811 PKD1L1 Health Risk Pathogenic PKD1L1-related disorder, PKD1L1-related disorder
RS769347062 CEP135 Health Risk Likely pathogenic —
RS769348060 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder
RS769348608 LRP5 Health Risk Pathogenic —
RS769348776 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1D
RS769349662 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS769349880 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS769349991 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 8 conditions
RS769350133 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS769350713 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS769352361 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS769352853 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS76935412 KCNN4 Health Risk Conflicting classifications of pathogenicity KCNN4-related disorder, Dehydrated hereditary stomatocytosis 2
RS769354565 ALDH3A2 Health Risk Pathogenic —
RS769354931 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS769355168 GRM6 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS769356878 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769359514 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS769359817 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769359884 FAM161A Health Risk Pathogenic —
RS769360822 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769360935 ASNS Health Risk Pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS769362204 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
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