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
RS1451052772 LAMC2 Health Risk Pathogenic —
RS145105484 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS145105621 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS145105768 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Weill-Marchesani syndrome
RS1451062499 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS145106503 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1451070589 ITGB4 Health Risk Likely pathogenic —
RS145107574 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS145107955 PDE6A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 43
RS145108467 FBLN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS1451086273 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS145108650 COASY Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 6, COASY-related disorder
RS1451088248 KMT2E Health Risk Pathogenic —
RS1451089848 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS145109446 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS145109914 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS145110365 ZNF335 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to ZNF335 deficiency, ZNF335-related disorder
RS145110602 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, History of neurodevelopmental disorder
RS1451108193 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1451114438 PRF1 Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS145112457 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS145112523 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS1451126803 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS145114326 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS1451144161 PEPD Health Risk Likely pathogenic —
RS1451144520 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS145114473 USH2A Health Risk Conflicting classifications of pathogenicity —
RS145114751 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145116688 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS145117545 CYP17A1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS145117989 RFX6 Health Risk Conflicting classifications of pathogenicity —
RS145118503 CLDN16 Health Risk Conflicting classifications of pathogenicity Primary hypomagnesemia, Inborn genetic diseases
RS145119475 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1451194842 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS1451195279 OTOF Health Risk Conflicting classifications of pathogenicity —
RS1451196379 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS145119819 FLG Health Risk Pathogenic —
RS145119827 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
RS145119918 MMP21 Health Risk Pathogenic/Likely pathogenic Visceral heterotaxy, Heterotaxy
RS145119952 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephaly
RS1451215042 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS1451219938 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS145122315 NDUFAF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS145122337 RET Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Hirschsprung disease
RS1451229797 PTPN4 Health Risk Pathogenic Inborn genetic diseases, PTPN4-related disorder
RS1451230055 GRIN1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1451240853 RELN Health Risk Pathogenic/Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1451241481 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS145124626 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS145125264 VWF Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Clear cell carcinoma of kidney
RS145125791 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome
RS1451258340 ERCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1451259945 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS145126193 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1451269647 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS145127621 ANO5 Health Risk Pathogenic —
RS1451278617 CD36 Health Risk Likely pathogenic CD36-related disorder, CD36-related disorder
RS1451281576 CHRNG Health Risk Likely pathogenic —
RS145128460 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-related disorder
RS1451284628 SLC12A3 Health Risk Pathogenic Bartter syndrome, Familial hypokalemia-hypomagnesemia
RS1451287233 TRPM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1451287719 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145129440 PSEN2 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, Dilated cardiomyopathy 1V
RS145129640 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS145129959 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS1451306414 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1451309159 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS145131011 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1451311121 ANO10 Health Risk Conflicting classifications of pathogenicity —
RS1451315165 TGM5 Health Risk Likely pathogenic Acral peeling skin syndrome, Acral peeling skin syndrome
RS1451322222 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Fanconi anemia
RS145132275 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Intellectual disability
RS145132329 PCSK1 Health Risk Pathogenic —
RS145132459 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS145132664 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS145133144 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS145133167 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1451336666 SCO2 Health Risk Pathogenic —
RS145133730 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS1451348539 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1451348781 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS1451350869 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS1451352816 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS145135349 HPS5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145135400 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Hypertrophic cardiomyopathy
RS145135688 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS145135759 ENTREP1 Health Risk Conflicting classifications of pathogenicity —
RS1451359371 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS145136257 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS145136281 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1451363764 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS145136848 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS1451372078 TYR Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS145137292 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS145137472 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS145138143 RELA Health Risk Conflicting classifications of pathogenicity Mucocutaneous ulceration, chronic
RS145138194 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS1451388185 CRB2 Health Risk Pathogenic —
RS145138923 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Inborn genetic diseases
RS1451394869 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
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