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
RS140537304 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1405374416 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS140537724 PLG Health Risk Conflicting classifications of pathogenicity Plasminogen deficiency, type I
RS140537845 SLC17A8 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
RS140537949 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS140538515 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS140538535 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, LIFR-related disorder
RS1405387434 PCNT Health Risk Pathogenic —
RS140539843 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Sudden cardiac arrest
RS140540096 GSTZ1 Health Risk Likely pathogenic Maleylacetoacetate isomerase deficiency, GSTZ1-related disorder
RS140540222 HARS2 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 2, Perrault syndrome 2
RS140540789 LAMC3 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, Clear cell carcinoma of kidney
RS140541824 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS140542428 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Inborn genetic diseases
RS140542643 TSPEAR Health Risk Conflicting classifications of pathogenicity TSPEAR-related disorder, TSPEAR-related disorder
RS140542787 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS140542975 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS140543032 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS140543135 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS140544023 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, Inborn genetic diseases
RS140544054 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, FAT4-related disorder
RS140544652 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS140544874 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS1405449925 CPLANE1 Health Risk Pathogenic —
RS140545494 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, Glycogen storage disease type X
RS140546984 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS140547417 CETP Health Risk Conflicting classifications of pathogenicity Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS140547520 PFN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 18, Amyotrophic lateral sclerosis type 18
RS140548001 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1405483444 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS140548353 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1405485811 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS140548603 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1405488688 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS140549609 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS1405498595 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS140550365 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1405510958 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS140551719 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS140551762 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS140552043 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS140553130 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS140553290 SETX Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Amyotrophic lateral sclerosis type 4
RS140553479 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS1405536870 ELANE Health Risk Pathogenic Cyclical neutropenia, Neutropenia
RS140553751 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS1405537973 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS140554156 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS140555177 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1405564573 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS140556652 DNAJB13 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 34, DNAJB13-related disorder
RS140557090 ROR2 Health Risk Conflicting classifications of pathogenicity —
RS140557163 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS1405576707 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS140558556 TAF1L Health Risk Conflicting classifications of pathogenicity —
RS1405595340 TGM1 Health Risk Pathogenic —
RS140560049 RHBDF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140560177 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140560320 CLCNKB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140561492 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS140561784 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS140561920 GATA1 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS140562248 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Nonpapillary renal cell carcinoma
RS140562402 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Monogenic diabetes
RS140562514 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, MYH8-related disorder
RS1405625567 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS140563067 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1405631299 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS140563222 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
RS1405633183 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS140563851 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, Inborn genetic diseases
RS140564189 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS140564566 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS1405646805 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS140564753 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1405658671 EYS Health Risk Pathogenic —
RS140566004 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS140566426 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS140566582 CR1 Health Risk Conflicting classifications of pathogenicity KNOPS BLOOD GROUP SYSTEM, KNOPS BLOOD GROUP SYSTEM
RS140566714 CHM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1405672269 TNXB Health Risk Likely pathogenic —
RS140568136 LHCGR Health Risk Pathogenic Leydig cell agenesis, Leydig cell agenesis
RS140568310 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS140568715 EPS8L2 Health Risk Conflicting classifications of pathogenicity —
RS1405688297 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS140569105 SAG Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa
RS140569195 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS1405705785 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS140571064 TTF2 Health Risk Conflicting classifications of pathogenicity —
RS1405712076 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS140571556 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS140571802 GBE1 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease
RS140572299 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS140572589 HMBS Health Risk Conflicting classifications of pathogenicity —
RS140573575 INSR Health Risk Conflicting classifications of pathogenicity —
RS140573664 DARS1 Health Risk Conflicting classifications of pathogenicity Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Inborn genetic diseases
RS140573721 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS140573900 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS140574202 CCDC8 Health Risk Conflicting classifications of pathogenicity CCDC8-related disorder, Inborn genetic diseases
RS140574574 SLC39A13 Health Risk Conflicting classifications of pathogenicity 6 conditions, Ehlers-Danlos syndrome
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