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
RS201785518 ANKLE2 Health Risk Conflicting classifications of pathogenicity Microcephaly 16, primary
RS201785599 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS201785610 LAMC3 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, Inborn genetic diseases
RS201785695 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS201785897 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS201786158 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS201786327 RPL11 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 7
RS201786397 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS201786773 ATR Health Risk Likely pathogenic —
RS201786897 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS201787275 SNORD118;TMEM107 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with calcifications and cysts, Meckel-Gruber syndrome
RS201787294 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS201787435 MYH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201787750 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, COQ8A-related disorder
RS201788309 NLRP1 Health Risk Conflicting classifications of pathogenicity NLRP1-related disorder, Inborn genetic diseases
RS201788352 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201788817 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS201789073 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS201789348 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR
RS201789789 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, PKD2-related disorder
RS201789841 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS201790260 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Retinal dystrophy
RS201790479 SLC39A7 Health Risk Likely pathogenic Agammaglobulinemia 9, autosomal recessive
RS201790726 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201790782 PCARE Health Risk Conflicting classifications of pathogenicity —
RS201790813 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS201790842 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS201791209 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Neurodevelopmental delay
RS201791586 TMEM67 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome
RS201791587 IFT81 Health Risk Pathogenic Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly
RS201791790 OCA2 Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS201791826 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS201791868 COG2 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IIq
RS201791900 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS201791953 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Inborn genetic diseases
RS201791973 ALPK1 Health Risk Conflicting classifications of pathogenicity ALPK1-related disorder, Inborn genetic diseases
RS201791992 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS201792033 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS201792518 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS201792591 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201793080 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS201793200 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS201793456 PEX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201793493 SLC6A2 Health Risk Conflicting classifications of pathogenicity —
RS201793499 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS201793562 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS201793635 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201793759 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS201793817 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS201793869 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS201793958 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201794043 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS201794205 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS201794404 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, Ovarian serous cystadenocarcinoma
RS201794569 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS201794629 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS201794647 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, Inborn genetic diseases
RS201794655 CARD10 Health Risk risk factor Primary open angle glaucoma, Primary open angle glaucoma
RS201794696 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201794808 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Inborn genetic diseases
RS201794999 IFT43 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81
RS201795189 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Sensory ataxic neuropathy
RS201795631 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS201795943 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS201796252 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, PC-related disorder
RS201796530 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS201796531 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS201797422 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS201797550 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS201797784 ARHGEF18 Health Risk Likely pathogenic Retinitis pigmentosa 78, Retinal dystrophy
RS201798320 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS201798537 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS201798649 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS201798705 GSR Health Risk Conflicting classifications of pathogenicity —
RS201798741 VAPB Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
RS201798809 CFB Health Risk Conflicting classifications of pathogenicity Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly
RS201798841 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS201798922 ZNF407 Health Risk Conflicting classifications of pathogenicity —
RS201798996 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS201799566 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS201799793 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS201799893 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS201800220 TPO Health Risk Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS201800225 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS201800537 ROBO3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201800819 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS201800868 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, KIF1C-related disorder
RS201801000 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS201801144 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Inborn genetic diseases
RS201801159 ZFHX2 Health Risk Conflicting classifications of pathogenicity Indifference to pain, congenital
RS201801448 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS201801499 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases
RS201801842 FCSK Health Risk Conflicting classifications of pathogenicity —
RS201802014 CHD8 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS201802152 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Intellectual disability
RS201802447 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201802621 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS201802815 RIPK4 Health Risk Conflicting classifications of pathogenicity Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
RS201803217 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201803493 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
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