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
RS779584531 COL4A4 Health Risk Likely pathogenic Polycystic kidney disease, COL4A4-related disorder
RS779584830 RD3 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 12, RD3-related disorder
RS779585131 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779585255 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Inborn genetic diseases
RS779585931 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS779586424 CRB2 Health Risk Pathogenic Focal segmental glomerulosclerosis 9, Focal segmental glomerulosclerosis 9
RS779587713 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS779588488 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS779588655 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Nephrolithiasis
RS779589005 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS779589651 F7 Health Risk Conflicting classifications of pathogenicity Abnormality of coagulation, F7-related disorder
RS779589728 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS779590747 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS779591881 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS77959215 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS779592342 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS779592523 TTC19 Health Risk Pathogenic —
RS779593707 CLCNKB Health Risk Pathogenic/Likely pathogenic Proteinuria, Hematuria
RS779594202 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS779594895 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS779596408 SGPL1 Health Risk Pathogenic —
RS779596692 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS779596861 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779597308 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS779597467 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS779597828 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS779597975 ARPC1B Health Risk Pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Squamous cell carcinoma of the head and neck
RS779598020 MIPEP Health Risk Conflicting classifications of pathogenicity Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Cardiomyopathy
RS779599093 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS779599439 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS779599960 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS779600354 ILDR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779600835 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS779601441 LIPA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Wolman disease
RS779602473 NDUFA13 Health Risk Likely pathogenic Hurthle cell carcinoma of thyroid, Mitochondrial complex I deficiency
RS779603085 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia 2, Primary ciliary dyskinesia 2
RS779603740 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS779604024 RBP4 Health Risk Conflicting classifications of pathogenicity —
RS779605105 MSH3 Health Risk Pathogenic —
RS779607772 CEL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Maturity-onset diabetes of the young type 8
RS779607937 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS779608764 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS779609081 SCN9A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS779609255 CD46 Health Risk Pathogenic —
RS779611112 ATP1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hemiplegic migraine
RS779611511 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS779611860 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS779612018 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Inborn genetic diseases
RS779612138 GNB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 42
RS779612414 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS77961246 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS779613772 DHX37 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, 46
RS779613867 GCSH Health Risk Conflicting classifications of pathogenicity GCSH-related disorder, GCSH-related disorder
RS779614400 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS779614513 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS77961452 BMS1 Health Risk Conflicting classifications of pathogenicity —
RS779614747 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS779615403 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS779615685 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS779615762 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS779617179 NRP2 Health Risk Likely pathogenic Inborn genetic diseases, NRP2-related disorder
RS779617676 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779619427 SAMD11 Health Risk Conflicting classifications of pathogenicity —
RS779619633 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS779619795 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS779619858 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779620187 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Clear cell carcinoma of kidney
RS779620838 CC2D1A Health Risk Pathogenic Autosomal recessive non-syndromic intellectual disability, Autosomal recessive non-syndromic intellectual disability
RS779621136 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS779623773 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS779625484 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6
RS779625900 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779626155 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Acute myeloid leukemia
RS779626536 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS779626652 IMPG2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS779627969 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS779628172 PIGM Health Risk Conflicting classifications of pathogenicity Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
RS779629382 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS779629574 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS779630318 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS779631503 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779631884 PAX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, 11p partial monosomy syndrome
RS779634773 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS779634956 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS779635749 ADGRV1 Health Risk Pathogenic —
RS779636188 OCA2 Health Risk Pathogenic —
RS779636222 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome
RS779636893 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS779637525 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS779637529 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS779638046 CAVIN1 Health Risk Pathogenic —
RS779638529 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
RS77963874 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS779640035 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS779640835 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RS779640853 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS779642226 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS779643000 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS779644096 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS779644594 MPLKIP Health Risk Pathogenic —
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