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
RS773243225 LRPAP1 Health Risk Likely pathogenic Rare isolated myopia, Rare isolated myopia
RS773243948 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS773245304 NFASC Health Risk Likely pathogenic Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
RS773245315 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS773246271 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS773248042 TUBB1 Health Risk Conflicting classifications of pathogenicity Congenital hypothyroidism, Macrothrombocytopenia
RS773251870 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Inborn genetic diseases
RS773252889 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS773253388 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS773255614 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS773255823 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS773256244 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS773256249 NEU1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773256580 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 2B
RS773257111 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS773257229 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS773257559 AARS2 Health Risk Likely pathogenic Leukoencephalopathy, progressive
RS773257929 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS773258369 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS773258464 COQ8A Health Risk Conflicting classifications of pathogenicity COQ8A-related disorder, COQ8A-related disorder
RS773260349 DNMT3A Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS773260532 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS773260717 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, Perlman syndrome
RS773261815 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS773262289 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS773262801 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS773263825 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS773263889 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS773264592 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS773265213 RUNX2 Health Risk Conflicting classifications of pathogenicity —
RS773265287 COL7A1 Health Risk Likely pathogenic —
RS773266815 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773267074 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS773267230 MAT1A Health Risk Pathogenic/Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS773267292 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS773268576 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS773269078 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS773269657 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS773271124 ALG3 Health Risk Pathogenic/Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS773271774 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773272089 CCDC88C Health Risk Pathogenic —
RS773272314 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS773272765 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS773274347 AEBP1 Health Risk Pathogenic/Likely pathogenic —
RS773274762 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773274796 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS773275095 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS773277552 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS773278338 AHI1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS773278607 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS773279269 LHCGR Health Risk Pathogenic/Likely pathogenic Leydig cell agenesis, LHCGR-related disorder
RS773280909 KIAA0753 Health Risk Pathogenic —
RS773281152 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS773281248 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS773281453 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS773281783 GCK Health Risk Conflicting classifications of pathogenicity Transient Neonatal Diabetes, Recessive
RS773282360 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS773282804 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS773282809 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS773283153 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1D
RS773283518 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS773284031 PDGFRB Health Risk Conflicting classifications of pathogenicity Acroosteolysis-keloid-like lesions-premature aging syndrome, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS773286543 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS773286595 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS773287275 KCNE3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 6, Cardiovascular phenotype
RS773288225 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS773288292 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS773288631 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS773289713 SLC5A2 Health Risk Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS773291391 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773292120 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS773293078 AK7 Health Risk Conflicting classifications of pathogenicity —
RS773293657 KCNV2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773293999 RAD51C Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS773294017 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS773296212 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS773296588 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS773296645 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773296925 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS773297007 STRA6 Health Risk Pathogenic/Likely pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS773297160 RSPO2 Health Risk Pathogenic —
RS773298544 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS773298687 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS773299186 DMD Health Risk Conflicting classifications of pathogenicity Becker muscular dystrophy, Cardiomyopathy
RS773300876 SEC63 Health Risk Likely pathogenic Polycystic liver disease 2, Polycystic liver disease 2
RS773301339 UROS Health Risk Likely pathogenic Cutaneous porphyria, Cutaneous porphyria
RS773301485 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS773301677 USH2A Health Risk Conflicting classifications of pathogenicity —
RS773303069 PDZD7 Health Risk Pathogenic —
RS773303914 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS773303931 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS773303940 MSH6 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Mismatch repair cancer syndrome 3
RS773303978 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, Cardiovascular phenotype
RS773304320 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS773304374 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS773304993 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773305477 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS773305645 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS773305845 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS773306000 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
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