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
RS774131564 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS774131656 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Spastic paraplegia
RS774131659 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS774131854 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS774132406 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Inborn genetic diseases
RS774132595 GPHN Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases
RS774132615 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS774132884 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774133574 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS774133746 LAMA3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS774135330 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS774136369 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774136727 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774136809 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS774137001 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS774137928 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS774139166 LTBP2 Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS774139365 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS774139970 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS774142518 COQ8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774143246 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774143329 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS77414333 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS774144071 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS774144118 COL7A1 Health Risk Likely pathogenic —
RS774144200 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS774144789 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS774145606 TRPV1 Health Risk Likely pathogenic See cases, See cases
RS774146015 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS774146374 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS774147100 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS774148061 LRRK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774148221 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS774148469 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS774148781 ARFGEF1 Health Risk Pathogenic/Likely pathogenic Developmental delay, impaired speech
RS774148938 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS774149338 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS774150500 APOA5 Health Risk Pathogenic/Likely pathogenic Hypertriglyceridemia 1, Familial type 5 hyperlipoproteinemia
RS774152293 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774152349 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS774152851 CHD8 Health Risk Pathogenic Inborn genetic diseases, Autism spectrum disorder
RS774153227 TRMU Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS774153480 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS774156512 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS774157225 TSEN54 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 2A, Pontoneocerebellar hypoplasia
RS774158046 MATR3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 21, MATR3-related disorder
RS774158999 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS774159224 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS774159573 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS774159791 MMUT Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS774159828 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS774160105 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS774160163 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS774160524 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS774160640 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS774161532 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS774162169 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP1-related disorder
RS774162322 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774162709 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS774163062 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS774163084 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS774163551 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS774164327 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS774166976 REN Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis
RS774167945 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774168080 EXT2 Health Risk Pathogenic Exostoses, multiple
RS774168389 GPSM2 Health Risk Likely pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS774168858 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Inborn genetic diseases
RS774169230 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Parkinsonian disorder
RS774170058 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS774170824 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS774172072 RUNX2 Health Risk Conflicting classifications of pathogenicity —
RS774172292 OTOGL Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS774174074 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS774174881 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS774174988 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS774175654 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS774175693 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS774175886 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS774176392 TTC19 Health Risk Conflicting classifications of pathogenicity TTC19-related disorder, Inborn genetic diseases
RS774177833 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774178055 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS774178253 BARD1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Familial cancer of breast
RS774179857 MNX1 Health Risk Conflicting classifications of pathogenicity Currarino triad, Inborn genetic diseases
RS774180632 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS774182356 SLC26A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774183791 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS774184465 PNPLA8 Health Risk Pathogenic Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS774184754 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS774185390 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS774185980 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS774186159 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS774186716 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS774187452 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS774188472 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS774188638 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS774190967 ALDH7A1 Health Risk Conflicting classifications of pathogenicity —
RS774191944 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774191975 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS774192195 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
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