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
RS1355372474 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1355372507 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1355377006 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1355411201 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1355424790 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1355425067 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS1355448697 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1355457071 GNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS1355461608 USH2A Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 36, Autosomal dominant nonsyndromic hearing loss 36
RS1355467895 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1355480465 UNC80 Health Risk Likely pathogenic Moderate global developmental delay, Moderate global developmental delay
RS1355492492 ABCB11 Health Risk Pathogenic —
RS1355507329 TEX14 Health Risk Likely pathogenic Spermatogenic failure 23, Spermatogenic failure 23
RS1355509467 COL7A1 Health Risk Pathogenic —
RS1355535952 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1355555142 TNFRSF11B Health Risk Likely pathogenic Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS1355570425 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1355576298 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1355589374 ERCC4 Health Risk Pathogenic Cockayne syndrome, Fanconi anemia complementation group Q
RS1355589929 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1355594941 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1355624192 TCAP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25
RS1355632505 FTCD Health Risk Likely pathogenic FTCD-related disorder, Sarcoma
RS1355649064 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS1355685453 EARS2 Health Risk Likely pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS1355690902 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Retinal dystrophy
RS1355690953 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1355691590 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1355697311 CTSC Health Risk Conflicting classifications of pathogenicity Papillon-Lefèvre syndrome, Haim-Munk syndrome
RS1355715592 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS1355716557 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1355716761 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1355731397 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS1355739310 ABAT Health Risk Pathogenic/Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1355745932 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1355754530 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1355760590 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1355767159 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS1355768631 CABP4 Health Risk Likely pathogenic —
RS1355781735 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1355802816 PROM1 Health Risk Pathogenic Retinitis pigmentosa 41, Cone-rod dystrophy
RS1355804755 PEX16 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1355806067 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1355806716 NBAS Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS1355838837 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1355856142 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS1355878901 ERCC4 Health Risk Pathogenic Fanconi anemia complementation group Q, Xeroderma pigmentosum
RS1355879925 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1355900379 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS1355905411 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1355909028 RXYLT1 Health Risk Pathogenic —
RS1355966040 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1355979496 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1355988609 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1356000803 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1356003109 LAMC2 Health Risk Pathogenic —
RS1356012723 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1356013382 GLI3 Health Risk Pathogenic Polysyndactyly 4, Polysyndactyly 4
RS1356014648 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1356068619 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1356073892 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS1356078500 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1356081271 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1356081968 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1356090839 BLM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1356095864 APOB Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypobetalipoproteinemia 1
RS1356103698 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1356104318 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1356107030 SETX Health Risk Pathogenic/Likely pathogenic —
RS1356107537 RPGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Primary ciliary dyskinesia
RS1356107538 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1356135634 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1356136873 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS1356154563 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1356156358 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS1356166646 MTPAP Health Risk Conflicting classifications of pathogenicity —
RS1356183663 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1356219990 ACAN Health Risk Pathogenic/Likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS1356229958 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1356231337 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1356231878 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1356232517 UNC45A Health Risk Conflicting classifications of pathogenicity Osteootohepatoenteric syndrome, Cholestasis-edema syndrome
RS1356240181 CTNNA1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Patterned macular dystrophy 2
RS1356246522 PAX3 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 1, PAX3-related disorder
RS1356254262 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Atrial septal defect 7
RS1356255450 SLC39A5 Health Risk Likely pathogenic Myopia 24, autosomal dominant
RS1356264344 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1356280167 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS1356287373 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1356317869 ABCC8 Health Risk Likely pathogenic —
RS1356329915 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS1356334936 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS1356336963 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1356340954 CAPN1 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS1356353167 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1356373737 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1356375715 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1356378120 PKD1 Health Risk Likely pathogenic PKD1-related disorder, PKD1-related disorder
RS1356405952 KDM5A Health Risk Likely pathogenic Intellectual disability, Seizure
RS1356426477 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, VISS syndrome
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