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
RS756008578 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS756010097 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756010661 SLC6A19 Health Risk Conflicting classifications of pathogenicity High myopia, Hyperglycinuria
RS756011865 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Inborn genetic diseases
RS756012779 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS756013171 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS756013406 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS756013479 NADK2 Health Risk Conflicting classifications of pathogenicity Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency
RS756013694 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Coffin-Lowry syndrome, Intellectual disability
RS756015202 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10
RS756016704 LIPA Health Risk Pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS756016910 TSHR Health Risk Pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS756017020 TRIOBP Health Risk Conflicting classifications of pathogenicity TRIOBP-related disorder, TRIOBP-related disorder
RS756017412 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS756017426 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS756018135 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS756018344 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS756018487 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS756018704 RAI1 Health Risk Pathogenic —
RS756018749 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS756019325 SLC26A4 Health Risk Pathogenic —
RS756020699 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS756020849 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS756021170 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS756021330 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756021768 MARS1 Health Risk Pathogenic Pulmonary alveolar proteinosis, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS756022224 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS756022347 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, NSD1-related disorder
RS756023006 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS756023124 NEU1 Health Risk Pathogenic —
RS756023239 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS75602337 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS756023441 PDHX Health Risk Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS756023893 PEX3 Health Risk Likely pathogenic —
RS756024033 TUBB2B Health Risk Likely pathogenic —
RS756024445 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756025227 VPS13D Health Risk Pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS756025941 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS756026742 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS756026847 CLASP1;CLASP1-AS1;RNU4ATAC Health Risk Conflicting classifications of pathogenicity Roifman syndrome, Osteodysplastic primordial dwarfism
RS756029120 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS756029160 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS756029240 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS756029520 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS756030149 LHFPL5 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS756031031 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, ABCA3-related disorder
RS756031857 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS756032160 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS756032457 USH1C Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS756035074 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756036451 CHST6 Health Risk Pathogenic/Likely pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS756038056 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS756038490 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS756039188 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS756039521 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS756040251 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS756040379 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS756040945 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS756041561 ASAH1 Health Risk Pathogenic —
RS756041768 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS756042084 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS756042888 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS756043669 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS756044034 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS756044431 TUB Health Risk Conflicting classifications of pathogenicity —
RS756044745 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS756045079 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS756045177 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS756045492 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS756048549 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS756049331 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS756050324 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS756050702 ERCC4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group Q, Xeroderma pigmentosum
RS756051157 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS756052150 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS756052603 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Familial cancer of breast
RS756053197 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS756054017 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS756054473 KLHL17 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS756055115 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS756055892 WT1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 4
RS756056158 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756056441 SPEG Health Risk Likely pathogenic SPEG-related congenital myopathy, SPEG-related congenital myopathy
RS756057922 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS756058789 LAMC3 Health Risk Pathogenic —
RS756059211 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756060769 MIPEP Health Risk Conflicting classifications of pathogenicity Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS756061536 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS756061989 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS756062421 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756062534 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS756062872 GATAD2B Health Risk Likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS756062969 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS756064266 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS756064750 CPAMD8 Health Risk Pathogenic Anterior segment dysgenesis 8, Anterior segment dysgenesis 8
RS756065296 EFEMP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Glaucoma 1
RS756065515 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS756065709 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS756065878 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS756066219 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
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