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
RS778930865 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS778932353 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder
RS778933589 CEP152 Health Risk Pathogenic —
RS778933609 RNASEH2B Health Risk Likely pathogenic —
RS778934246 RHAG Health Risk Conflicting classifications of pathogenicity —
RS778934538 MYO7A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 1B
RS778936558 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lissencephaly 9 with complex brainstem malformation
RS778936667 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778936762 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS778937659 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS778937772 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS778940305 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS778940391 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS778940656 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS778940856 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS778941390 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS778943853 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS778943882 LAMB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Cobblestone lissencephaly without muscular or ocular involvement
RS778943919 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS778943927 KLHL24 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic
RS778945217 HDAC4 Health Risk Conflicting classifications of pathogenicity —
RS778946833 PIGK Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
RS778947880 MIB1 Health Risk Likely pathogenic —
RS778947923 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS778949599 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Yunis-Varon syndrome
RS778951277 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS778951584 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS778951863 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS778952116 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS778952334 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS778952692 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS778952721 TTPA Health Risk Pathogenic —
RS778952896 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS778953608 LIFR Health Risk Pathogenic —
RS778954591 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS778956664 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS778957097 UBA5 Health Risk Conflicting classifications of pathogenicity UBA5-related disorder, Developmental and epileptic encephalopathy
RS778957100 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS778958318 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS778958638 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS778959035 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS778959609 REN Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis
RS778960311 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS778960378 TACO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS778960409 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS778961637 CNTNAP1 Health Risk Pathogenic —
RS778961643 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS778961690 LARS1 Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 1, Infantile liver failure syndrome 1
RS778961697 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS778962225 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS778962979 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS778963145 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS778965407 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS778965506 TTN Health Risk Conflicting classifications of pathogenicity —
RS778966916 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS778968824 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS778969303 ADNP Health Risk Conflicting classifications of pathogenicity —
RS778969755 SDHD Health Risk Likely pathogenic Pheochromocytoma, Cowden syndrome 3
RS778971356 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS778972543 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS778973398 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS778975466 GLI2 Health Risk Likely pathogenic Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS778975482 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS778975867 UVSSA Health Risk Pathogenic UV-sensitive syndrome 3, UV-sensitive syndrome 3
RS778977288 KCNV2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS778978325 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS778979740 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS778979964 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS778980318 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778980446 ORC1 Health Risk Likely pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS778982089 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS778982551 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS778982759 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency 1
RS778983019 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS778983888 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS778985234 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS778985686 POLR3A Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS778985735 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS778985780 VPS13A Health Risk Pathogenic —
RS778986343 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS778986624 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS778987248 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS778987552 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS778989224 CKAP2L Health Risk Likely pathogenic Filippi syndrome, Filippi syndrome
RS778989252 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS778989302 INSR Health Risk Pathogenic —
RS778990190 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS778990634 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS778990969 TGFB3 Health Risk Pathogenic —
RS778992111 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS778992418 TREX1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 1, Aicardi-Goutieres syndrome 1
RS778993919 FAS Health Risk Pathogenic/Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Inherited Immunodeficiency Diseases
RS778993986 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS778995340 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778995730 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS778995803 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS778997114 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778998026 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS778998196 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS778999706 HR Health Risk Pathogenic —
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