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
RS142428974 GUCA1B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1424291552 C19orf12 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 4, Neurodegeneration with brain iron accumulation 4
RS142429411 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS1424300803 DDHD2 Health Risk Likely pathogenic —
RS142430147 ZNFX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1424314036 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS142432514 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS142432676 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS142433309 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS142433332 DARS2 Health Risk Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Gait ataxia
RS142433421 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-related disorder
RS1424336122 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS142434011 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS142434274 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS142434516 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1424348888 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS142434889 COXFA4 Health Risk Conflicting classifications of pathogenicity —
RS142435467 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Inborn genetic diseases
RS142435821 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142436391 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS1424365656 DNHD1 Health Risk Pathogenic —
RS1424366444 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS142437272 ZMYM3 Health Risk Conflicting classifications of pathogenicity —
RS1424374529 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS142437505 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1424377493 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Inborn genetic diseases
RS142438011 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Spermatogenic failure 46
RS142438588 TDP2 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 23
RS142438731 CELSR1 Health Risk Conflicting classifications of pathogenicity CELSR1-related disorder, CELSR1-related disorder
RS142438830 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS1424389771 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS142439390 SCNN1A Health Risk Pathogenic/Likely pathogenic Pseudohypoaldosteronism, type IB1
RS142440636 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Hyperekplexia 3
RS1424407266 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1424409859 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS142441575 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS142441643 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS1424417218 EMC1 Health Risk Pathogenic —
RS1424418191 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS1424419114 APOA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS142443276 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS142443294 ABCD4 Health Risk Likely pathogenic Cobalamin C disease, Familial cancer of breast
RS1424445748 CHST14 Health Risk Pathogenic Ehlers-Danlos syndrome, musculocontractural type
RS1424452972 NDUFV1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS1424453890 SLC34A3 Health Risk Pathogenic —
RS1424455269 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS142447348 EPB41L1 Health Risk Conflicting classifications of pathogenicity —
RS142447736 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS1424478086 CWF19L1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS142447888 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS142447950 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1424485718 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS142448733 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1424487626 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1424491117 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1424496188 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS1424499058 POU3F3 Health Risk Pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS142450703 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS142451273 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Susceptibility to mononeuropathy of the median nerve
RS1424516740 GNB2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies
RS142451929 LAMA2 Health Risk Pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS142452124 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, Joubert syndrome 15
RS1424522130 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1424525709 BICRA Health Risk Likely pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS1424526290 SPRED1 Health Risk Pathogenic/Likely pathogenic Legius syndrome, Legius syndrome
RS142453163 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS142454198 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS142454476 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Distal myopathy
RS142454490 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS142454880 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ATP6V0A2-related disorder
RS1424549058 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS142455173 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS142455342 TAPBP Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, MHC class I deficiency
RS142455594 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Inborn genetic diseases
RS142455912 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS142456044 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1424560976 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS142456282 SLC40A1 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 4, Inborn genetic diseases
RS142456327 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142456469 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 12
RS142458410 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Cutis laxa
RS142458862 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy
RS142459130 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS142459706 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS1424603943 UGT1A1 Health Risk Pathogenic/Likely pathogenic BILIRUBIN, SERUM LEVEL OF
RS142460433 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS142461221 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS142461689 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS142462128 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS1424631447 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1424639717 USH2A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A
RS142464282 VPS33A Health Risk Conflicting classifications of pathogenicity —
RS142465256 TTLL5 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 19, Cone-rod dystrophy 19
RS142465521 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS142466038 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS1424661837 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS142466273 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS142467329 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYH9-related disorder
RS142468138 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1424683209 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
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