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
RS1469135249 DNA2 Health Risk Pathogenic/Likely pathogenic Rothmund-Thomson syndrome, Rothmund-Thomson syndrome type 4
RS146914159 DCHS1 Health Risk Conflicting classifications of pathogenicity DCHS1-related disorder, Van Maldergem syndrome 1
RS1469144732 VPS13A Health Risk Pathogenic —
RS146914780 CRYAA Health Risk Conflicting classifications of pathogenicity Cataract 9 multiple types, CRYAA-related disorder
RS146916036 UNC119 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Idiopathic CD4 lymphocytopenia
RS1469162224 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS146916682 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS146917473 AXDND1 Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS146917730 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS146918863 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS1469192494 HCN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 24
RS1469195833 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS146919762 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS1469198620 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS146919951 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, NECTIN1-related disorder
RS1469202310 ABCC8 Health Risk Likely pathogenic —
RS146920285 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C
RS146921234 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS1469215547 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1469219144 NEK1 Health Risk Likely pathogenic NEK1-related disorder, NEK1-related disorder
RS146922115 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Joubert syndrome 25
RS1469221964 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS146922325 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS146922557 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS146922726 RELN Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS146923910 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS146924245 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1469248513 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS146924860 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS146924988 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, RECQL-related disorder
RS146925098 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Meckel syndrome
RS1469271544 SMARCA4 Health Risk Likely pathogenic Neuroblastoma, Neuroblastoma
RS1469272825 PARN Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1469272964 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS146927624 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1469276846 MTTP Health Risk Pathogenic —
RS146927771 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS1469278346 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1469279569 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1469283598 CA2 Health Risk Likely pathogenic CA2-related disorder, CA2-related disorder
RS1469287281 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1469287853 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS146929198 SLC1A3 Health Risk Conflicting classifications of pathogenicity —
RS1469297168 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS146930374 GGCX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146930801 SLC45A2 Health Risk Pathogenic —
RS146932786 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS146933218 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS1469336975 LEPR Health Risk Pathogenic LEPR-related disorder, LEPR-related disorder
RS1469341456 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS146934620 FADD Health Risk Conflicting classifications of pathogenicity FADD-related immunodeficiency, FADD-related immunodeficiency
RS146934810 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS146936371 ZNF644 Health Risk Pathogenic Myopia 21, autosomal dominant
RS146936556 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS146936581 NFKB1 Health Risk Conflicting classifications of pathogenicity —
RS146936870 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS146938047 SIGLEC1 Health Risk Conflicting classifications of pathogenicity —
RS1469386000 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS146939026 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS146939069 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS146940932 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS146941428 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS146941600 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1469421649 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS146942382 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1469425216 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS146942592 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS1469427343 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS146942863 REST Health Risk Conflicting classifications of pathogenicity REST-related disorder, REST-related disorder
RS1469429098 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1469441260 ZNF462 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS146944207 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS146944225 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS146944568 GHRHR Health Risk Conflicting classifications of pathogenicity —
RS146945921 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS1469460289 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1469467036 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS146946984 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1469479748 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS1469481918 EYS Health Risk Pathogenic —
RS146948888 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS146949180 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Connective tissue disorder
RS146949852 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS146949876 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Inborn genetic diseases
RS1469499452 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS146951171 FKTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS146951325 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, GFM1-related disorder
RS146951835 ERLEC1 Health Risk Likely pathogenic Mandibular prognathia, Mandibular prognathia
RS1469521034 COL11A1 Health Risk Pathogenic —
RS146953015 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS146953852 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Connective tissue disorder
RS1469541725 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS146954342 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS1469544671 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Maturity-onset diabetes of the young type 1
RS146954848 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS1469562355 WDR72 Health Risk Pathogenic/Likely pathogenic Distal renal tubular acidosis, Hypophosphatemic rickets
RS146956297 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, ELP1-related disorder
RS1469567566 NEFH Health Risk Conflicting classifications of pathogenicity NEFH-related disorder, Inborn genetic diseases
RS1469569680 PDE6B Health Risk Likely pathogenic —
RS146956976 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
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