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
RS1354084230 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS1354115593 UNC13D Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3
RS1354118542 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1354122232 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1354126704 NFU1 Health Risk Pathogenic/Likely pathogenic Multiple mitochondrial dysfunctions syndrome 1, Multiple mitochondrial dysfunctions syndrome 1
RS1354130291 TBC1D23 Health Risk Likely pathogenic Pontocerebellar hypoplasia, type 11
RS1354150928 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1354153410 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1354160835 TREX1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS1354167809 TGM1 Health Risk Pathogenic —
RS1354181982 DONSON Health Risk Pathogenic —
RS1354185952 FLG Health Risk Pathogenic —
RS1354208416 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS1354210851 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1354232643 HSD17B3 Health Risk Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS1354252782 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1354256883 DMD Health Risk Pathogenic —
RS1354268287 RIPK4 Health Risk Pathogenic Bartsocas-Papas syndrome 1, Bartsocas-Papas syndrome 1
RS1354270268 OTOG Health Risk Likely pathogenic —
RS1354271840 CBS Health Risk Pathogenic/Likely pathogenic CBS-related disorder, Classic homocystinuria
RS1354272260 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1354286313 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1354291965 F9 Health Risk Likely pathogenic Thrombophilia, X-linked
RS1354292487 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1354316710 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS1354326532 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1354331847 ZDHHC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Syndromic X-linked intellectual disability Raymond type
RS1354336544 DCLRE1C Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1354388799 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1354394880 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy
RS1354416117 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1354433663 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1354438772 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS1354439750 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1354476372 LZTFL1 Health Risk Likely pathogenic Bardet-Biedl syndrome 17, LZTFL1-related disorder
RS1354513700 AP4B1 Health Risk Pathogenic —
RS1354515769 NOG Health Risk Pathogenic NOG-related-symphlangism spectrum disorder, NOG-related-symphlangism spectrum disorder
RS1354517067 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS1354521948 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS1354534120 NFKB1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1354542457 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS1354580969 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1354581284 IL7R Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1354582663 POLG Health Risk Likely pathogenic Inborn genetic diseases, 6 conditions
RS1354592503 PPARG Health Risk Pathogenic/Likely pathogenic PPARG-related familial partial lipodystrophy, Familial partial lipodystrophy
RS1354593943 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1354621995 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1354626305 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1354641607 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS1354648948 CFH Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1354674050 COL7A1 Health Risk Pathogenic —
RS1354687901 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1354690186 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1354713391 COL9A1 Health Risk Pathogenic —
RS1354714214 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1354718634 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1354730657 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome, Kleefstra syndrome
RS1354737257 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS1354751133 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1354753753 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1354777824 SPTA1 Health Risk Pathogenic —
RS1354785209 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1354786875 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1354884515 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1354885963 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1354917235 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1354918928 DPF2 Health Risk Likely pathogenic —
RS1354919632 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1354934373 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1354951198 RXYLT1 Health Risk Pathogenic/Likely pathogenic —
RS1354996048 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1355000721 POLE Health Risk Pathogenic —
RS1355021408 ABL1 Health Risk Likely pathogenic Congenital heart defects and skeletal malformations syndrome, Congenital heart defects and skeletal malformations syndrome
RS1355037102 SIL1 Health Risk Likely pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS1355062450 CACNA1A Health Risk Pathogenic Seizure, Seizure
RS1355068287 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1355071930 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1355113466 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1355146733 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1355166210 DLG4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1355166868 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1355198242 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1355199594 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1355211474 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Bardet-Biedl syndrome 13
RS1355225244 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS1355238974 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa
RS1355239331 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS1355240257 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1355259368 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1355262412 USH1C Health Risk Pathogenic Usher syndrome, Usher syndrome type 1C
RS1355273525 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS1355275335 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1355278372 CFAP69 Health Risk Pathogenic Spermatogenic failure 24, Spermatogenic failure 24
RS1355280060 TNRC6B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1355284797 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS1355288041 WBP4 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1355297002 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1355321952 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1355323529 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS1355346296 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Arterial tortuosity syndrome
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