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
RS746077104 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS746077436 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS746077579 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS746078222 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS746079347 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS746079811 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS746081059 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS746081104 SLC1A2 Health Risk Conflicting classifications of pathogenicity —
RS746081291 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS746082077 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS746082270 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS746082496 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS746082628 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS746082814 NDUFAF1 Health Risk Conflicting classifications of pathogenicity —
RS746082869 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS746084369 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS746084513 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS746085629 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746085696 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS746085723 MMUT Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS746086649 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS746087016 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS746088246 TSHR Health Risk Conflicting classifications of pathogenicity Familial gestational hyperthyroidism, Hypothyroidism due to TSH receptor mutations
RS746090216 USH2A Health Risk Conflicting classifications of pathogenicity —
RS746091400 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS746091720 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS746091910 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS746092199 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS746095070 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS746095110 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS746095345 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS746096174 DNM1L Health Risk Conflicting classifications of pathogenicity —
RS746097144 CYP21A2 Health Risk Pathogenic —
RS746098961 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS746099217 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS746101086 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS746102505 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS746102559 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS746102997 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS746103666 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS746103796 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Autosomal dominant distal renal tubular acidosis
RS746104317 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS746105339 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS746105363 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS746105983 FLNB Health Risk Pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS746107488 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS746108409 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS746108651 PDK3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
RS746108926 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746109501 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS746109550 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS746112821 DSTYK Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
RS746112825 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS746113372 PRKAR1A Health Risk Conflicting classifications of pathogenicity Acrodysostosis 1 with or without hormone resistance, Hereditary cancer-predisposing syndrome
RS746113543 LCAT Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Fish-eye disease
RS746114163 PARN Health Risk Conflicting classifications of pathogenicity Familial Interstitial Pneumonia, Pulmonary fibrosis
RS746115846 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746115963 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypobetalipoproteinemia, Hypercholesterolemia
RS746116315 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS746116477 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Malignant tumor of urinary bladder
RS746117178 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS746117535 IMPG2 Health Risk Pathogenic —
RS746117702 METTL23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS746118697 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS746118702 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS746118823 ADAMTSL4 Health Risk Likely pathogenic ADAMTSL4-related disorder, ADAMTSL4-related disorder
RS746118976 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS746118995 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS746120293 GYS2 Health Risk Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS746120802 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS746121315 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS746121407 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746121736 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS746121910 LARS1 Health Risk Conflicting classifications of pathogenicity —
RS746122348 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS746124283 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS746125031 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS746125212 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS746125273 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS746125499 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS746125523 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS746125587 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746126066 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Lymphatic malformation 6
RS746127216 HFE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary hemochromatosis
RS746127684 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS746127796 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS746127862 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS746128095 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 61
RS746128123 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS746128346 CASQ2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS746128411 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS746128772 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS746128825 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS746128841 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Cone-rod dystrophy
RS746129224 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS746131112 TMEM94 Health Risk Pathogenic Inborn genetic diseases, Rare syndromic intellectual disability
RS746133376 HCN2 Health Risk Pathogenic HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
RS746133743 PKD1L1 Health Risk Pathogenic/Likely pathogenic PKD1L1-related disorder, Heterotaxy
RS746135199 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS746135357 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
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