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
RS377306924 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS377307234 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS377308009 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Inborn genetic diseases
RS377308875 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS377309471 UROC1 Health Risk Conflicting classifications of pathogenicity —
RS377309807 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377309887 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS377310579 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS377310580 PODXL Health Risk Conflicting classifications of pathogenicity —
RS377310581 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS377311148 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS377311393 DEF6 Health Risk Conflicting classifications of pathogenicity DEF6-related disorder, DEF6-related disorder
RS377312287 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS377313331 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS377314203 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS377314381 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS377315722 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS377316335 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS377319302 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS377319314 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS377319610 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS377319699 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377320080 PLOD3 Health Risk Conflicting classifications of pathogenicity —
RS377320274 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377320336 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS377320521 SIX3 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Inborn genetic diseases
RS377321694 SNX10 Health Risk Pathogenic —
RS377323091 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS377323760 NDUFS3 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS377324244 FLNB Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type III, Atelosteogenesis type I
RS377324348 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Hereditary cancer-predisposing syndrome
RS377325220 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease
RS377326167 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS377327993 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS377328873 OTOF Health Risk Conflicting classifications of pathogenicity —
RS377329227 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS377329266 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS377331666 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS377331781 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, Kostmann syndrome
RS377332009 KY Health Risk Pathogenic Myofibrillar myopathy 7, Myofibrillar myopathy 7
RS377333036 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS377333936 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Gastric cancer
RS377334665 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377334858 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS377334933 TRIM63 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS377335295 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS377336879 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377337130 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Inborn genetic diseases
RS377337528 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377337763 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, non-polyposis
RS377337949 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS377338075 SLC52A1 Health Risk Conflicting classifications of pathogenicity Vitamin B2 deficiency, Vitamin B2 deficiency
RS377338098 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS377338217 FBN1 Health Risk Conflicting classifications of pathogenicity 8 conditions, Familial thoracic aortic aneurysm and aortic dissection
RS377339443 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS377340289 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377340315 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS377340567 B3GAT3 Health Risk Pathogenic/Likely pathogenic MULTIPLE JOINT DISLOCATIONS, SHORT STATURE
RS377341653 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS377342233 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377342875 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS377342940 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS377343204 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases
RS377343487 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS377343669 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS377344899 SYNE1 Health Risk Pathogenic —
RS377345366 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS377348581 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS377348805 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS377349459 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS377350366 SYNJ1 Health Risk Conflicting classifications of pathogenicity Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS377351349 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS377351519 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS377351599 PAX8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypothyroidism
RS377352238 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, GFM1-related disorder
RS377353667 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS377354387 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS377354475 KRAS Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS377354842 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377355204 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS377355762 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS377356443 CRBN Health Risk Likely pathogenic —
RS377356540 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS377356631 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS377356882 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS377357761 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, MTR-related disorder
RS377357931 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4J, Inborn genetic diseases
RS377358096 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome
RS377359117 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS377359525 FTCD Health Risk Conflicting classifications of pathogenicity Glutamate formiminotransferase deficiency, Intellectual disability
RS377359922 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS377360026 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377360750 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS377361240 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS377362395 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS377362966 DEGS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377363130 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS377363590 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS377364712 MYO5B Health Risk Likely pathogenic —
RS377365499 SAMD11 Health Risk Conflicting classifications of pathogenicity —
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