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
RS1055326153 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1055368099 FOXN1 Health Risk Pathogenic —
RS1055368753 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1055371114 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1055393876 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1055407857 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS10554564 NIPBL Health Risk Conflicting classifications of pathogenicity —
RS1055478673 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS1055533509 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1055609567 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1055680335 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1055686023 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1055698058 RNU7-1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 9, Spasticity
RS1055701850 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS1055705235 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1055742325 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, KIF5A-related intractable neonatal myoclonus
RS1055753755 COL4A3 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS1055796261 GPR143 Health Risk Conflicting classifications of pathogenicity —
RS1055813191 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS1055816694 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS1055831008 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1055839662 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1055913716 ALDH18A1 Health Risk Likely pathogenic Cutis laxa, autosomal dominant 3
RS1055925150 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1055945806 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1055960218 MYH11 Health Risk Conflicting classifications of pathogenicity Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection
RS1055962685 VWF Health Risk Pathogenic/Likely pathogenic —
RS1055985062 CLCN2 Health Risk Pathogenic CLCN2-related disorder, CLCN2-related disorder
RS1055988910 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1056021170 PTF1A Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
RS1056021266 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS1056058034 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1056071555 F7 Health Risk Pathogenic/Likely pathogenic Factor VII deficiency, Factor VII deficiency
RS1056072996 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS1056103582 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1056103847 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1056118121 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1056125920 IFT74 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 40, Joubert syndrome 40
RS1056134185 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1056159821 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS1056169167 DNHD1 Health Risk Pathogenic —
RS1056226386 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1056234449 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1056238409 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS1056252582 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1056290046 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1056323839 DDR2 Health Risk Pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS1056350781 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1056396947 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS1056466895 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1056494105 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1056532914 ZMYND11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1056574154 DYNLT2B Health Risk Pathogenic Short-rib thoracic dysplasia 17 with or without polydactyly, Short-rib thoracic dysplasia 17 with or without polydactyly
RS1056645432 AAAS Health Risk Likely pathogenic —
RS1056677010 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1056686381 TUBGCP6 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS1056692999 TRPV4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1056722915 CYP11B2 Health Risk Pathogenic/Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS1056739194 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1056752324 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 3, Respiratory ciliopathies including non-CF bronchiectasis
RS1056808978 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1056820947 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1056843521 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1056856929 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS1056866797 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1056874191 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1056909320 MC4R Health Risk Likely pathogenic Obesity, Obesity
RS1056909521 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1056919085 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS1056951278 DOCK8;DOCK8-AS1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1056978451 ADGRV1 Health Risk Pathogenic —
RS1056985038 ASAH1 Health Risk Pathogenic —
RS1057034356 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS1057035880 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1057119431 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1057141162 ASL Health Risk Conflicting classifications of pathogenicity —
RS1057164807 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS1057165128 RARS2 Health Risk Pathogenic —
RS1057175147 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1057204973 COL13A1 Health Risk Likely pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS1057207177 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057217316 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1
RS1057256890 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1057272016 PHYH Health Risk Pathogenic/Likely pathogenic Refsum syndrome, Phytanic acid storage disease
RS1057320759 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057341966 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS1057346353 TTN Health Risk Likely pathogenic Tibial muscular dystrophy, Cardiomyopathy
RS1057368575 WFS1 Health Risk Uncertain risk allele Optic atrophy, Wolfram syndrome 1
RS1057402744 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS4-related disorder
RS1057435197 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS1057460296 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS1057467571 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, permanent neonatal 3
RS1057495486 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS1057505320 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1057515421 LMNA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Hypertrophic cardiomyopathy 1
RS1057515422 NOTCH1 Health Risk Pathogenic Aortic valve disease 1, Aortic valve disease 1
RS1057515423 NOTCH1 Health Risk Pathogenic Aortic valve disease 1, Aortic valve disease 1
RS1057515448 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1057515453 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS1057515462 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
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