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
RS202067116 KCNJ2 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, Andersen Tawil syndrome
RS202067232 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS202067248 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS202067277 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS202067345 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS202067416 A2ML1 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS202067798 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS202068245 DSTYK Health Risk Conflicting classifications of pathogenicity Congenital anomalies of kidney and urinary tract 1, DSTYK-related disorder
RS202068380 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS202068755 MYRF Health Risk Pathogenic —
RS202068995 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS202069201 CLCNKA Health Risk Conflicting classifications of pathogenicity Bartter disease type 4B, Bartter disease type 3
RS202069202 ARMC5 Health Risk Conflicting classifications of pathogenicity ARMC5-related disorder, Inborn genetic diseases
RS202069335 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202069684 AGK Health Risk Conflicting classifications of pathogenicity Sengers syndrome, Cataract 38
RS202070065 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS202070075 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS202070432 STARD9 Health Risk Conflicting classifications of pathogenicity —
RS202070445 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS202070666 PLXNA3 Health Risk Conflicting classifications of pathogenicity Short stature, PLXNA3-related disorder
RS202070769 KIT Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, KIT-related disorder
RS202070860 L1CAM Health Risk Likely pathogenic —
RS202071046 F12 Health Risk Likely pathogenic —
RS202071528 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, DYNC2H1-related disorder
RS202071781 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS202071907 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS202072706 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 9
RS202072955 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Hereditary cancer-predisposing syndrome
RS202073376 ATP8A2 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS202073484 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS202073531 ACP4 Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta, type 1J
RS202074007 STARD9 Health Risk Conflicting classifications of pathogenicity STARD9-related disorder, STARD9-related disorder
RS202074293 L1CAM Health Risk Conflicting classifications of pathogenicity L1CAM-related disorder, Spastic paraplegia
RS202074317 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS202074599 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Connective tissue disorder
RS202074612 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS202074915 CEP135 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202075199 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS202075236 GIPC3 Health Risk Conflicting classifications of pathogenicity —
RS202075321 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity CDK5RAP2-related disorder, Inborn genetic diseases
RS202075719 LMBR1L Health Risk Likely pathogenic DSD incomplete virilization, DSD incomplete virilization
RS202075842 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS202076203 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS202076353 DNAH9 Health Risk Conflicting classifications of pathogenicity —
RS202076791 CIT Health Risk Pathogenic Microcephaly 17, primary
RS202076893 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Retinal dystrophy
RS202076967 GTF2IRD2 Health Risk Conflicting classifications of pathogenicity —
RS202077180 ATCAY Health Risk Conflicting classifications of pathogenicity Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
RS202077756 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder
RS202077851 STX1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 9
RS202077921 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS202078154 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS202078273 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS202078295 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS202078702 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS202078936 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS202079138 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS202079239 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS202079418 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS202079424 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS202079794 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202080062 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS202080098 SCAP Health Risk Conflicting classifications of pathogenicity —
RS202080237 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS202080269 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS202080270 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS202080663 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS202080674 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Inborn genetic diseases
RS202081023 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia
RS202081167 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 5
RS202081420 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS202081611 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS202081804 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS202081894 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS202081954 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS202082284 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS202082304 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS202082319 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS202082944 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, RP1L1-related disorder
RS202082978 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS202083169 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS202083272 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseases
RS202083639 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS202084078 MYLK2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 1
RS202084149 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS202084326 DGKE Health Risk Conflicting classifications of pathogenicity Kidney disorder, DGKE-related disorder
RS202084736 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases
RS202084959 DSP Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS202084972 CEP135 Health Risk Conflicting classifications of pathogenicity —
RS202085145 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, SUOX-related disorder
RS202085271 POLG2 Health Risk Likely pathogenic —
RS202085322 ALPK1 Health Risk Conflicting classifications of pathogenicity —
RS202085918 OTOGL Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84B, OTOGL-related disorder
RS202086134 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS202086317 OTOF Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss
RS202086524 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS2020872 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS202087308 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Oculootoradial syndrome
RS202087312 FOXJ1 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS202087501 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
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