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
RS143533680 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1435343419 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS143534838 SCP2 Health Risk Conflicting classifications of pathogenicity —
RS143535006 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS143535251 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Inborn genetic diseases
RS1435355373 PRR12 Health Risk Likely pathogenic Neuroocular syndrome 1, Neuroocular syndrome
RS1435358988 MC4R Health Risk Likely pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS143536408 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS143537405 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS1435376086 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Jeune thoracic dystrophy
RS143537610 MITF Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS143538947 UPF3B Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 14, Inborn genetic diseases
RS143539004 ESCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Roberts-SC phocomelia syndrome
RS143539498 LRP5 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic liver disease, Inborn genetic diseases
RS143540129 SLC5A6 Health Risk Conflicting classifications of pathogenicity Neurodegeneration, infantile-onset
RS1435411888 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 65
RS1435437660 TCAP Health Risk Pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
RS143544032 GRM1 Health Risk Conflicting classifications of pathogenicity GRM1-related disorder, Ovarian serous cystadenocarcinoma
RS143544112 RPL3L Health Risk Pathogenic Cardiomyopathy, dilated
RS1435451030 SUN2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS143545741 ATG7 Health Risk Conflicting classifications of pathogenicity NAFLD1, Spinocerebellar ataxia
RS1435458212 OTOGL Health Risk Pathogenic —
RS143547259 STX11 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS143548008 CDH5 Health Risk Conflicting classifications of pathogenicity —
RS143548063 MACF1 Health Risk Conflicting classifications of pathogenicity Spectraplakinopathy type I, Lissencephaly 9 with complex brainstem malformation
RS143548638 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS143548979 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness
RS143549737 PDSS2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS143549909 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS143550601 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS143550695 WDR35 Health Risk Likely pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS1435508069 HPS3 Health Risk Pathogenic —
RS143550996 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS143551687 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, SGCA-related disorder
RS1435519890 STAG1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 47
RS143552311 COL4A5 Health Risk Likely pathogenic —
RS143552557 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS143552986 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS1435536418 SCN5A Health Risk Likely pathogenic Brugada syndrome 1, Long QT syndrome 3
RS1435541208 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS1435543004 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143555186 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1435561684 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1435564748 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS143556666 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS143556739 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS143556907 PTCD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143556945 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS1435574238 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS143557803 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS143557848 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS143558316 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS143558324 SCARB2 Health Risk Conflicting classifications of pathogenicity Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
RS143558330 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS1435587153 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS143560463 TBC1D8B Health Risk Conflicting classifications of pathogenicity TBC1D8B-related disorder, TBC1D8B-related disorder
RS143560718 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS143560726 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS143560849 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS143561620 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS143561967 C9orf72 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
RS1435620034 RARS2 Health Risk Pathogenic —
RS143562020 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase deficiency
RS143562140 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS1435621658 IKZF1 Health Risk Likely pathogenic —
RS1435623358 RRM2B Health Risk Conflicting classifications of pathogenicity RRM2B-related disorder, RRM2B-related disorder
RS143562358 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS143562359 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS143562525 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1435631082 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS143563728 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1435637520 DRC1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 21, Primary ciliary dyskinesia
RS1435641758 SI Health Risk Pathogenic SI-related disorder, SI-related disorder
RS143565222 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS143565725 VMA21 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with excessive autophagy, Inborn genetic diseases
RS143566042 KRT5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143566075 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS143566455 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1435671751 NPHP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome with renal defect, Nephronophthisis
RS1435676276 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS143567667 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1435687311 DAW1 Health Risk Pathogenic Primary ciliary dyskinesia, Ciliary dyskinesia
RS1435689952 DYNC2LI1 Health Risk Pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
RS143569686 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS143570767 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS143570842 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS143570915 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCDH15-related disorder
RS143570936 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy
RS1435710212 PLEKHG5 Health Risk Pathogenic Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis
RS143571197 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS143571317 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS143571375 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS1435718430 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS143571876 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS143571888 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS143572116 MAK Health Risk Pathogenic —
RS1435723160 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1435734312 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Inborn genetic diseases
RS1435738912 HIVEP2 Health Risk Conflicting classifications of pathogenicity HIVEP2-related disorder, HIVEP2-related disorder
RS143574903 PLOD3 Health Risk Conflicting classifications of pathogenicity —
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