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
RS1465460248 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS146546197 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS1465463508 KIF5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS146546544 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Congenital contracture
RS146546770 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS146547322 SLC9A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS146547564 CDHR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146547672 SLC26A5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61
RS146547678 CAVIN1 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 4, CAVIN1-related disorder
RS146548363 NDST1 Health Risk Conflicting classifications of pathogenicity —
RS146549103 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, THBD-related disorder
RS1465496645 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1465499923 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS146551411 MLPH Health Risk Pathogenic Inborn genetic diseases, Griscelli syndrome type 3
RS146551545 ERCC6L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ERCC6L2-related disorder
RS146552124 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases
RS146552802 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS146552975 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS146554084 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder
RS146554705 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS146554939 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS146555195 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS1465555535 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS146556695 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Dent disease type 2
RS1465567484 PDZD7 Health Risk Pathogenic —
RS146556791 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS146558015 HERC2 Health Risk Conflicting classifications of pathogenicity HERC2-related disorder, Inborn genetic diseases
RS1465588989 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS146559223 CDC45 Health Risk Likely pathogenic Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS146560021 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS146560083 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH8-related disorder
RS146561469 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1465620610 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS146562956 NDUFA11 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1465629909 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS1465630651 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS146563928 CEP78 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy and hearing loss 1, CEP78-related disorder
RS146563951 WFS1 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, WFS1-related disorder
RS146564314 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS146564466 DNAJC21 Health Risk Conflicting classifications of pathogenicity DNAJC21-related disorder, Inborn genetic diseases
RS1465649718 GANAB Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS1465650547 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS146565340 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder
RS1465656842 LAMC2 Health Risk Pathogenic —
RS146565893 DNM1L Health Risk Conflicting classifications of pathogenicity —
RS146566771 BNC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BNC2-related disorder
RS146567226 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS146567321 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS1465673227 SMAD3 Health Risk Conflicting classifications of pathogenicity Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS146567337 EDAR Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS146567853 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS146568303 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS146568326 IL12RB2 Health Risk Conflicting classifications of pathogenicity —
RS1465687986 NFKB1 Health Risk Pathogenic —
RS1465690691 USP53 Health Risk Pathogenic —
RS146569496 ADGRA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS146569517 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS146569520 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Inborn genetic diseases
RS1465696669 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypercholesterolemia
RS1465704791 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS146571352 PNPT1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70
RS146571552 CDC73 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Parathyroid carcinoma
RS146571700 PTPN11 Health Risk Conflicting classifications of pathogenicity Juvenile myelomonocytic leukemia, LEOPARD syndrome 1
RS146571920 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS146572363 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS146572414 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sarcoma
RS146572467 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1
RS1465724732 F9 Health Risk Likely pathogenic Thrombophilia, X-linked
RS146572907 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS146573053 LRP1 Health Risk Conflicting classifications of pathogenicity —
RS146573280 MCEE Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
RS1465733702 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1465735521 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS146573563 SLC25A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146573578 TMEM126A Health Risk Conflicting classifications of pathogenicity Autosomal recessive optic atrophy, OPA7 type
RS1465736368 EXOSC2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
RS146573874 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1465738840 TRAPPC9 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS146574121 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS146574874 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS146575217 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS1465752595 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS146575757 FBLIM1 Health Risk Conflicting classifications of pathogenicity —
RS146576740 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
RS146576868 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS146577635 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS146578426 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS1465787576 RXYLT1 Health Risk Pathogenic —
RS146578812 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS1465792260 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS146579299 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8 northern epilepsy variant, Neuronal ceroid lipofuscinosis 8
RS146579504 SLC2A10 Health Risk Pathogenic/Likely pathogenic Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS146580059 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1465803265 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Inborn genetic diseases
RS146580493 SHANK2 Health Risk Conflicting classifications of pathogenicity Autism, Autism
RS1465809492 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS146581290 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, GNAS-related disorder
RS1465820080 COL27A1 Health Risk Pathogenic/Likely pathogenic Steel syndrome, Steel syndrome
RS146582474 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS146582871 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
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