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
RS754064567 MYPN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1KK
RS754064981 CDT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754065526 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS754066841 MKKS Health Risk Pathogenic/Likely pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS754066881 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS754067214 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS754067988 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754068936 MPZ Health Risk Conflicting classifications of pathogenicity 7 conditions, Charcot-Marie-Tooth disease
RS754069091 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS754069818 HARS2 Health Risk Likely pathogenic Perrault syndrome 2, Perrault syndrome 2
RS754070045 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS754070093 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS754072174 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754074166 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases
RS754075625 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS754075778 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome 1
RS754075911 USH2A Health Risk Likely pathogenic —
RS754076425 PJVK Health Risk Pathogenic —
RS754076573 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS754077128 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis type 2, Mucopolysaccharidosis
RS754078574 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS754079962 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS754080445 CDC45 Health Risk Likely pathogenic Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS754081311 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS754081544 TWNK Health Risk Conflicting classifications of pathogenicity Perrault syndrome 5, Perrault syndrome 5
RS754081635 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS754081921 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS754082348 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS754082669 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS754085928 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, COL4A3-related disorder
RS754086671 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS754086897 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS754087173 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS754087233 ARL2BP Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS754087775 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS754087904 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS754088416 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS754088610 ABCA4 Health Risk Pathogenic Isolated macular dystrophy, Isolated macular dystrophy
RS754088992 EYA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1J
RS754090538 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS754090711 WFS1 Health Risk Likely pathogenic —
RS754091712 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS754092059 PTPRC Health Risk Likely pathogenic Immunodeficiency 105, Immunodeficiency 105
RS754092062 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS754094260 ADCY10 Health Risk Likely pathogenic Familial idiopathic hypercalciuria, Familial idiopathic hypercalciuria
RS754096545 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS754097253 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS754097557 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS754097561 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS754097967 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754099015 WDR73 Health Risk Pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS754100023 BMP1 Health Risk Likely pathogenic —
RS754100176 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS754100363 KIZ Health Risk Pathogenic —
RS754101639 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754101758 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS754104046 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS754104059 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Ischemic stroke
RS754104546 MYO7A Health Risk Likely pathogenic —
RS754104695 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS754104931 USH2A Health Risk Pathogenic —
RS754106837 PPP2R3C Health Risk Pathogenic Gonadal dysgenesis, dysmorphic facies
RS754107444 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS754108525 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS754109027 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS754109115 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS754109868 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS754111466 TRPS1 Health Risk Likely pathogenic —
RS754113666 CNOT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754115924 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS754116386 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS754116867 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS754119978 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS754120044 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS754120063 SLC2A10 Health Risk Conflicting classifications of pathogenicity Familial aortopathy, Familial aortopathy
RS754121141 MARS2 Health Risk Conflicting classifications of pathogenicity —
RS754121148 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS754121759 EXOSC9 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS754121842 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754122018 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS754122699 LAMC3 Health Risk Conflicting classifications of pathogenicity —
RS754124986 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS754125407 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic Isolated ectopia lentis, Isolated ectopia lentis
RS754126406 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS754126557 GH1 Health Risk Likely pathogenic Autosomal dominant isolated somatotropin deficiency, Autosomal dominant isolated somatotropin deficiency
RS754126755 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS754127386 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
RS754128155 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS754128910 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS754129466 ASXL1 Health Risk Pathogenic Inborn genetic diseases, Rubinstein Taybi like syndrome
RS754130052 SUN5 Health Risk Likely pathogenic Spermatogenic failure 16, Spermatogenic failure 16
RS754130942 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B
RS754131049 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS754131566 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS754133410 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS754133577 DSG2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS754133842 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS754134498 OTOGL Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS754134578 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS754135389 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, AFG2A-related disorder
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