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
RS769190256 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS769191749 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS769193111 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS769193201 FDPS Health Risk Pathogenic Porokeratosis 9, multiple types
RS769194998 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS769195866 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS769195904 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Familial cancer of breast
RS769196275 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS769196688 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS769197301 HPS5 Health Risk Pathogenic —
RS769198531 DDX59 Health Risk Pathogenic Orofaciodigital syndrome V, Orofaciodigital syndrome V
RS769198717 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769198746 USH2A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A
RS769198983 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS769199118 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS769200796 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS769202456 MACF1 Health Risk Conflicting classifications of pathogenicity MACF1-related disorder, Inborn genetic diseases
RS769202646 SEC24D Health Risk Pathogenic/Likely pathogenic SEC24D-related disorder, SEC24D-related disorder
RS769203048 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS769203609 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS769203968 CTNNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769205402 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS769205953 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS769206388 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769206763 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS769207177 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS769207938 ABCA7 Health Risk Likely pathogenic ABCA7-related disorder, ABCA7-related disorder
RS769209179 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS769209663 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS769209737 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS769210629 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS769210828 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS769211133 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS769211487 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS769211682 OTOG Health Risk Conflicting classifications of pathogenicity —
RS769211787 COL4A6 Health Risk Likely pathogenic COL4A6-related disorder, COL4A6-related disorder
RS769211813 LMF1 Health Risk Pathogenic Lipase deficiency, combined
RS769212398 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS769212952 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS769213562 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS769213707 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS769213768 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS769214234 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS769215192 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS769215411 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS769215629 ADGRV1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinal dystrophy
RS76921794 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS769218008 SPEN Health Risk Pathogenic —
RS769218623 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS769219669 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS769219928 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS769220327 NADSYN1 Health Risk Pathogenic Congenital NAD deficiency disorder, Vertebral
RS769220751 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS769220833 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS769220870 DNAAF11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS769221289 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS769221710 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS769222073 FTL Health Risk Conflicting classifications of pathogenicity Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
RS769222264 GCSH Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Multiple mitochondrial dysfunctions syndrome 7
RS769223218 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS769223408 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS769223754 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, CCDC39-related disorder
RS769224387 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS769224534 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS769225929 XRCC4 Health Risk Pathogenic —
RS769226745 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS769227978 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS769229606 CYP4F22 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 5, Lamellar ichthyosis
RS769229932 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS769230097 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS769231981 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS76923280 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS769233029 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS769233762 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS769233880 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS769234730 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS769234940 CHAT Health Risk Pathogenic/Likely pathogenic 11 conditions, Familial infantile myasthenia
RS769235753 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS769235876 PDE11A Health Risk Pathogenic/Likely pathogenic Pigmented nodular adrenocortical disease, primary
RS769236743 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS769236847 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Neurodevelopmental delay
RS769237459 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS769239259 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769239899 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS769239902 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS769239969 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS769240762 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS769240800 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS769241929 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, PNPLA6-related disorder
RS769241947 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS769242222 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS769242340 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS769242733 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS769242977 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS769243354 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS769243366 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS769243823 UGDH Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS769243979 FLNC Health Risk Conflicting classifications of pathogenicity FLNC-related disorder, Cardiovascular phenotype
RS769243993 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS769244075 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
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