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
RS141373128 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS141373204 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS141373793 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1413742263 HNF4A Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 1
RS141374913 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1413752114 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS141375260 FLG Health Risk Pathogenic/Likely pathogenic Dermatitis, atopic
RS141375785 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS1413760246 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1413775764 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS141379070 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS141379407 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS141379692 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1413797947 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1413809242 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS141381896 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS141382637 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1413827545 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS141382984 CYP4F22 Health Risk Conflicting classifications of pathogenicity CYP4F22-related disorder, CYP4F22-related disorder
RS1413833807 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1413836585 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1413836890 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS1413839473 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS141383988 PCK2 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
RS1413843050 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1413843105 PISD Health Risk Likely pathogenic —
RS141385926 ITGB4 Health Risk Conflicting classifications of pathogenicity ITGB4-related disorder, Junctional epidermolysis bullosa with pyloric atresia
RS141386201 ABCG5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia
RS1413863796 FAM161A Health Risk Pathogenic —
RS141386841 ZMPSTE24 Health Risk Conflicting classifications of pathogenicity Mandibuloacral dysplasia with type B lipodystrophy, Lethal tight skin contracture syndrome
RS141386891 CNGA3 Health Risk Pathogenic Achromatopsia, Macular dystrophy
RS1413872299 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS141387242 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS141387255 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS141387386 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, FKBP10-related disorder
RS1413875392 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS141387770 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1413884641 TMEM216 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS1413885352 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Retinal disorder
RS141389059 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS141389711 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome
RS141390152 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS141390544 LAMB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1413906605 ELP1 Health Risk Likely pathogenic —
RS1413910260 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS141391984 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS141392067 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS141395733 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141395813 COL4A1 Health Risk Conflicting classifications of pathogenicity Congenital anomaly of kidney and urinary tract, Inborn genetic diseases
RS1413960643 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1413961070 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS141396559 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS141396595 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
RS1413966492 TYR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141396952 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS141396971 VLDLR Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS141397228 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS1413976755 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS141398762 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1413987767 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1413989228 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS141399869 TBC1D24 Health Risk Conflicting classifications of pathogenicity DOORS syndrome, Developmental and epileptic encephalopathy
RS141400095 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS141400341 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Inborn genetic diseases
RS141400587 TNNI2 Health Risk Conflicting classifications of pathogenicity TNNI2-related disorder, TNNI2-related disorder
RS1414007551 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS141400889 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS141402683 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS141402957 TP53 Health Risk Pathogenic Lung adenocarcinoma, Li-Fraumeni syndrome 1
RS141403112 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS1414031345 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS141403253 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter syndrome
RS1414035000 FGG Health Risk Likely pathogenic Hypofibrinogenemia, Hypofibrinogenemia
RS1414041522 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS141405267 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS141405524 NIN Health Risk Conflicting classifications of pathogenicity NIN-related disorder, NIN-related disorder
RS141405588 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141407040 LRP5 Health Risk Conflicting classifications of pathogenicity Microcephaly, Osteoporosis with pseudoglioma
RS141407224 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder
RS141407311 ARCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141407711 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141407987 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS141408004 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS141408531 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS141408688 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Inborn genetic diseases
RS1414090114 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1414091448 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1414092978 C1QA Health Risk Pathogenic —
RS1414104515 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS141410561 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141410951 NPHP3 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis
RS141411839 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141412542 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS141414055 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS1414143303 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS141414377 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS141414634 SON Health Risk Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS1414146587 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1414146646 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141414815 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Inborn genetic diseases
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