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
RS773667668 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS773668457 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Abnormality of metabolism/homeostasis
RS773669504 SLC12A3 Health Risk Likely pathogenic —
RS773669619 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 8 conditions
RS773670132 APOC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773670408 UBR1 Health Risk Pathogenic —
RS773670891 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion
RS773671821 CIDEC Health Risk Conflicting classifications of pathogenicity —
RS773673162 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS773674679 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Inborn genetic diseases
RS773674773 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS773675555 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS773675647 VARS2 Health Risk Likely pathogenic —
RS773675787 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS773676225 MORC2 Health Risk Likely pathogenic Developmental delay, impaired growth
RS773677327 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS773677513 AGK Health Risk Likely pathogenic Sengers syndrome, Cataract 38
RS773677616 SLC22A12 Health Risk Likely pathogenic —
RS773677629 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS773677827 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS773678732 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS773678949 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773679384 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS773680167 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS773680472 TGM5 Health Risk Pathogenic —
RS773680831 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS773681235 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS773681267 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS773681556 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS773682011 TLR1 Health Risk Pathogenic Rheumatoid arthritis, Rheumatoid arthritis
RS773682292 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Nonpapillary renal cell carcinoma
RS773682521 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773682747 CLDN9 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive 116
RS773682937 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS773683728 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CACNA1D-related disorder
RS773683921 XPA Health Risk Pathogenic —
RS773684158 PRKAR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney complex
RS773684291 MKS1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Bardet-Biedl syndrome 13
RS773684718 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS773684789 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, Cataract 41
RS773685207 MED13 Health Risk Pathogenic —
RS773685575 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS773686174 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS773686816 PIK3R1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 36 with lymphoproliferation, SHORT syndrome
RS773687142 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS773688171 MIPEP Health Risk Pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS773689531 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS773690202 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS773690764 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Hammertoe, Lower limb muscle weakness
RS773691688 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS773692029 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS77369218 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type III, Gaucher disease
RS773693079 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS773693788 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS773694113 NFKB1 Health Risk Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases, Immunodeficiency
RS773695263 SCN1A Health Risk Conflicting classifications of pathogenicity —
RS773696166 FLT4 Health Risk Conflicting classifications of pathogenicity Lymphedema, Lymphedema
RS773698181 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS773699560 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS773699669 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS773700438 LAMB3 Health Risk Pathogenic —
RS773701437 IQCE Health Risk Conflicting classifications of pathogenicity Brachydactyly, Syndactyly
RS773701460 IFT140 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 80, Saldino-Mainzer syndrome
RS773702657 PKHD1L1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
RS773704365 CDHR1 Health Risk Likely pathogenic —
RS773704775 CRB2 Health Risk Conflicting classifications of pathogenicity Ventriculomegaly-cystic kidney disease, Ventriculomegaly-cystic kidney disease
RS773705000 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS773705133 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS773706813 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS773707172 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS773708510 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS773708731 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS773709702 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS773710035 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS773710071 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS773710101 RAG2 Health Risk Pathogenic Histiocytic medullary reticulosis, Recombinase activating gene 2 deficiency
RS773710550 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS773711154 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773713199 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS773714478 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia, Stanescu type
RS773714780 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS773715630 GMPPA Health Risk Conflicting classifications of pathogenicity Alacrima, achalasia
RS773715691 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS773716148 CTC1 Health Risk Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS77371662 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS773716719 MBD5 Health Risk Conflicting classifications of pathogenicity Microcephaly, Intellectual disability
RS773716735 C8B Health Risk Pathogenic —
RS773716930 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS773718324 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS773720185 HSD17B3 Health Risk Likely pathogenic Pseudohermaphroditism, Pseudohermaphroditism
RS773720534 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773721983 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS773722168 SMPD4 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS773722179 TPK1 Health Risk Conflicting classifications of pathogenicity Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases
RS773722943 PIGQ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773723001 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS773723606 BRWD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773724817 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS773725359 CEP63 Health Risk Likely pathogenic Seckel syndrome 6, Seckel syndrome 6
RS773727087 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
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