SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS119103223 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS119103224 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS119103225 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS119103226 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS119103227 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS119103228 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS119103229 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS119103230 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS119103231 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS119103232 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, BTD-related disorder
RS119103233 SEC63 Health Risk Pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS119103234 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia
RS119103236 ALG3 Health Risk Pathogenic/Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS119103238 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS119103240 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS119103241 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS119103242 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS119103243 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS119103244 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS119103245 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS119103248 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS119103249 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS119103251 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS119103252 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS119103253 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS119103254 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS119103255 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS119103256 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS119103257 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS119103258 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS119103259 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS119103260 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS119103261 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS119103262 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease
RS119103263 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Hereditary motor and sensory neuropathy with optic atrophy
RS119103264 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2
RS119103265 MFN2 Health Risk Pathogenic Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2
RS119103266 MFN2 Health Risk Pathogenic Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease
RS119103267 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS119103268 MFN2 Health Risk Pathogenic Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2A2
RS119103269 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS119103270 NCF1 Health Risk Pathogenic Granulomatous disease, chronic
RS119103271 NCF1 Health Risk Pathogenic Granulomatous disease, chronic
RS119103272 NCF1 Health Risk Pathogenic Granulomatous disease, chronic
RS119103273 NCF1 Health Risk Pathogenic Granulomatous disease, chronic
RS119103274 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS119103276 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS119103277 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS119103278 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS119103279 MYH14 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS119103280 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
RS119103281 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, MYH14-related disorder
RS119103283 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS119103284 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS119103285 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS119103286 TTC8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 8, Bardet-Biedl syndrome
RS119103287 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS119103288 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Exostoses
RS119103289 EXT1 Health Risk Pathogenic Exostoses, multiple
RS119103290 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Exostoses
RS1191043398 INPP5E Health Risk Pathogenic Joubert syndrome, INPP5E-related disorder
RS1191046309 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS1191056306 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS1191056931 WDR19 Health Risk Likely pathogenic Jeune thoracic dystrophy, Senior-Loken syndrome 8
RS1191074716 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS1191085308 TAOK1 Health Risk Likely pathogenic —
RS1191090323 SHANK3 Health Risk Pathogenic —
RS1191093439 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS1191111879 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1191117776 CD46 Health Risk Pathogenic/Pathogenic, low penetrance Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS1191124879 MPLKIP Health Risk Pathogenic —
RS1191141117 CLCN7 Health Risk Likely pathogenic —
RS1191141364 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1191142951 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS1191143782 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2
RS1191147473 GPR143 Health Risk Pathogenic —
RS1191157047 EYA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1J
RS1191193699 MVK Health Risk Pathogenic Porokeratosis 3, disseminated superficial actinic type
RS1191198388 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1191203668 DNMT3B Health Risk Likely pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS1191211949 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, Myopathy
RS1191230933 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS1191238988 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1191239079 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1191259480 RDX Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS1191270963 VPS13A Health Risk Pathogenic —
RS1191280597 TCTN2 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1191286670 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS1191287768 TNRC6B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Global developmental delay with speech and behavioral abnormalities
RS1191310144 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1191322448 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS1191340189 TCF12 Health Risk Conflicting classifications of pathogenicity TCF12-related craniosynostosis, Hypogonadotropic hypogonadism 26 with or without anosmia
RS1191346899 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1191352284 GRIN2B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1191355416 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1191361764 CYBA Health Risk Likely pathogenic Granulomatous disease, chronic
RS1191391104 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1191402804 CYP11B2 Health Risk Pathogenic Corticosterone methyloxidase type 2 deficiency, Corticosterone methyloxidase type 2 deficiency
RS1191415115 AP4M1 Health Risk Pathogenic —
RS1191429915 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
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