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
RS1164871363 HBB Health Risk Conflicting classifications of pathogenicity —
RS1164875023 MOCOS Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS1164877128 HPGD Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS1164896895 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1164911383 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1164917118 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa pruriginosa, Recessive dystrophic epidermolysis bullosa
RS1164918878 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS1164927451 RAG2 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1164929312 COL27A1 Health Risk Pathogenic —
RS1164941572 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1164941642 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS116494260 SELENOI Health Risk Conflicting classifications of pathogenicity —
RS116494412 SUCO Health Risk Conflicting classifications of pathogenicity —
RS116496131 DIABLO Health Risk Conflicting classifications of pathogenicity —
RS1164986524 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS11649957 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS1164997707 KCNH5 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS116500162 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS1165021634 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1165021874 FOLR1 Health Risk Likely pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS116504075 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS1165046276 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Ovarian serous cystadenocarcinoma
RS1165052640 ATP1A2 Health Risk Pathogenic/Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS116505603 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS116506614 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6, age-related cortical
RS116507519 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, LRP2-related disorder
RS116507802 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS1165102742 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1165109120 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1165110929 BCS1L Health Risk Likely pathogenic —
RS1165120864 MBD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1165139589 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1165169806 CAD Health Risk Pathogenic —
RS1165176547 DENND4A Health Risk Likely pathogenic —
RS116518022 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS1165198558 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1165204072 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1165205177 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Intellectual disability
RS11652075 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS1165208700 ALPK3 Health Risk Likely pathogenic —
RS116520950 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS1165211827 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1165213387 RYR1 Health Risk Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS1165218506 GALNS Health Risk Pathogenic/Likely pathogenic Morquio syndrome, Mucopolysaccharidosis
RS1165233721 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS1165239659 COL7A1 Health Risk Pathogenic —
RS1165243207 TCTN1 Health Risk Likely pathogenic Joubert syndrome 13, Joubert syndrome
RS1165249729 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS116524991 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS116526686 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS116526975 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS116528173 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1165322354 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS116533505 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1165347541 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS116535684 WRAP53 Health Risk Conflicting classifications of pathogenicity —
RS116536514 TBCD Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1165365401 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1165371723 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS11653832 NLRP1 Health Risk Conflicting classifications of pathogenicity —
RS11653893 CARD14 Health Risk Benign; association Psoriasis 2, Pityriasis rubra pilaris
RS1165393509 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1165407566 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1165408563 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS116541276 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal congenital glycogen storage disease of heart
RS116541830 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS116541926 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1165425393 DONSON Health Risk Pathogenic —
RS1165435486 ABCA3 Health Risk Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS116544270 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS11654533 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS1165454778 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS116546060 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1165464622 SCNN1A Health Risk Likely pathogenic —
RS1165469663 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS116547139 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1165489547 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS116549128 MSH4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS116549376 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1165494330 LOXHD1 Health Risk Pathogenic —
RS1165501581 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1165501753 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1165502618 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1165503481 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS116551057 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1165511243 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS116551187 GJA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS1165558487 ICOSLG Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1165573890 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1165582049 COL2A1 Health Risk Likely pathogenic Kniest dysplasia, Kniest dysplasia
RS116558260 TRIM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2R, Colon adenocarcinoma
RS1165584356 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS116561042 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Inborn genetic diseases
RS1165615401 CC2D2A Health Risk Likely pathogenic —
RS1165625614 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1165626901 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1165646203 EIF2AK4 Health Risk Pathogenic —
RS116568645 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, FAT4-related disorder
RS1165696705 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1165699664 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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