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
RS746623532 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS746623621 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS746623981 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS746624223 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS746625213 F7 Health Risk Likely pathogenic Factor VII deficiency, Factor VII deficiency
RS746625317 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS746626039 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Myocardial infarction
RS746626353 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS746627444 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS746627889 LRPPRC Health Risk Pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS746628782 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746628905 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS746629838 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS746630071 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS746630679 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS746631025 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS746631156 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS746631259 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS746631390 VARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS746631923 CCDC88A Health Risk Pathogenic —
RS746632073 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS746632559 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746633090 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS746633185 SLC12A2 Health Risk Conflicting classifications of pathogenicity Delpire-McNeill syndrome, Hearing loss
RS746633371 CFAP410 Health Risk Pathogenic Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS746633493 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, Inborn genetic diseases
RS746633621 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS746634404 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS746635262 MSH2 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Hereditary nonpolyposis colorectal neoplasms
RS746636748 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS746637821 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS746638562 NUP210 Health Risk Conflicting classifications of pathogenicity —
RS746638965 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS746639451 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS746640196 ALMS1 Health Risk Pathogenic/Likely pathogenic —
RS746640722 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS74664147 SKIC3 Health Risk Conflicting classifications of pathogenicity SKIC3-related disorder, SKIC3-related disorder
RS746641833 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746641892 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS74664206 ITGA2B Health Risk Pathogenic Abnormal platelet function, Glanzmann thrombasthenia
RS746642259 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS746645358 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS746646126 PRKN Health Risk Pathogenic/Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Lung cancer
RS746646631 CDKN2C Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS746646687 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS746647549 MKS1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS746647683 INPPL1 Health Risk Pathogenic/Likely pathogenic Opsismodysplasia, Opsismodysplasia
RS746647838 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS746648486 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS746649683 ZNF711 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 97
RS746650160 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS746650457 EYA1 Health Risk Likely pathogenic —
RS746650866 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS746651350 MYD88 Health Risk Conflicting classifications of pathogenicity Pyogenic bacterial infections due to MyD88 deficiency, MYD88-related disorder
RS746654808 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS746654907 COX15 Health Risk Conflicting classifications of pathogenicity —
RS746654944 TRIO Health Risk Pathogenic/Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual developmental disorder
RS746657668 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Inborn genetic diseases
RS746658493 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS746658625 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS746659421 SLC12A1 Health Risk Pathogenic —
RS746659820 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS746659856 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS746660978 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS746661607 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS746662023 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746662232 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS746663189 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS746663568 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS746663793 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 50
RS746664310 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS746664646 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS746667217 MYO7A Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS746668134 MMP2 Health Risk Likely pathogenic MMP2-related disorder, Ovarian serous cystadenocarcinoma
RS746668314 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS746669146 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746670792 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS746671039 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS746671363 MERTK Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS746671446 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS746672224 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS746674701 EMC1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS746674736 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS746674813 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS746674986 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS746675022 SGCA Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS746676365 BMPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primary pulmonary hypertension
RS746676928 PNPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746677039 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS746677177 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS746677293 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS746678525 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS746679988 SMCHD1 Health Risk Likely pathogenic —
RS746680777 DPH5 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with short stature, prominent forehead
RS746680829 COCH Health Risk Conflicting classifications of pathogenicity —
RS746681064 OCA2 Health Risk Pathogenic —
RS746681404 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS746681765 SLC25A46 Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary motor and sensory
RS746683647 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS746684996 TNNI3K Health Risk Conflicting classifications of pathogenicity Atrial conduction disease, Atrial conduction disease
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