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
RS190388213 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, RECQL4-related disorder
RS190391786 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS190393538 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS190396031 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS190398670 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS190405420 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS190405488 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS190405606 BSCL2 Health Risk Pathogenic Breast carcinoma, Reduced delayed hypersensitivity
RS190407445 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS190409957 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS190411812 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS190415098 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS190416018 RBM20 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1DD
RS190421400 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS190421916 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS190423114 POLH Health Risk Pathogenic —
RS190427553 UGT1A1 Health Risk Conflicting classifications of pathogenicity Gilbert syndrome, Crigler-Najjar syndrome
RS190427962 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1904291954 PIEZO1 Health Risk Likely pathogenic Thickened nuchal skin fold, Hydrops fetalis
RS1904297127 PIEZO1 Health Risk Likely pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS190430215 TUSC3 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1904304634 PIEZO1 Health Risk Pathogenic Inborn genetic diseases, Lymphatic malformation 6
RS190430477 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS190434719 PITRM1 Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Uveal melanoma
RS190437842 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS190439406 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS190440332 NADK2 Health Risk Conflicting classifications of pathogenicity Progressive encephalopathy with leukodystrophy due to DECR deficiency, Progressive encephalopathy with leukodystrophy due to DECR deficiency
RS190440703 WT1 Health Risk Pathogenic —
RS1904465031 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS190450522 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS190450967 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS190453078 CUL3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without autism or seizures, Pseudohypoaldosteronism type 2E
RS1904552378 PIEZO1 Health Risk Likely pathogenic Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
RS190461277 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS190461403 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS190462758 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS190463258 VPS13D Health Risk Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS190463957 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS190470017 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS190471428 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS190474682 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS190476119 EXPH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1904771410 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS190477216 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS190477316 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS190478262 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS190481457 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS190481949 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1904821405 PIEZO1 Health Risk Likely pathogenic Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
RS190483418 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS190485816 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS190490019 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS190495300 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS190496263 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS190497588 ALAD Health Risk Conflicting classifications of pathogenicity Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
RS1904986620 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS190500366 SLFN14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1905007623 PITPNM3 Health Risk Pathogenic Cone dystrophy, Cone dystrophy
RS1905045736 PIEZO1 Health Risk Likely pathogenic —
RS190505648 SGSH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis
RS1905070544 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1905103030 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS190512512 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1905125726 SGCA Health Risk Likely pathogenic —
RS190515330 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1905167458 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS190518140 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1905219617 PIEZO1 Health Risk Likely pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS190521996 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, See cases
RS1905254738 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1905256830 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1905303889 SGCA Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS190532690 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS190532814 DOCK8 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS190537801 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS190539368 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS190540235 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS190540405 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS190540580 MBTPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1905412024 IRF8 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS190546350 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS190547268 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS190548494 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS190548695 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 3, NPHP3-related Meckel-like syndrome
RS190549473 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS190549838 NEU1 Health Risk Pathogenic Sialidosis type 2, Sialidosis type 2
RS190551025 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS190551509 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1905545130 SPNS2 Health Risk Likely pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS190559381 RADIL Health Risk Conflicting classifications of pathogenicity —
RS190565627 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS190570269 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS190571910 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-related disorder
RS190574498 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1905764128 ZNF469 Health Risk Pathogenic —
RS190577885 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS190577993 TRAF3IP1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 9, Inborn genetic diseases
RS1905827976 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1905872842 ZNF469 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1905923050 ZNF469 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
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