SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1201009622 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1201020534 F8 Health Risk Pathogenic —
RS1201047547 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1201048143 COQ8B Health Risk Likely pathogenic Lung cancer, Lung cancer
RS1201050964 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Blau syndrome
RS1201057731 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Congenital glaucoma
RS1201087762 DNAH1 Health Risk Likely pathogenic —
RS1201093320 HBA1 Health Risk Pathogenic Hemoglobin H disease, Methemoglobinemia
RS1201126343 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1201137446 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1201147185 FLG2 Health Risk Likely pathogenic —
RS1201172788 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1201188083 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1201197937 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS1201229554 LDLRAP1 Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1201231261 PDE6B Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1201247953 COL9A3 Health Risk Pathogenic/Likely pathogenic Stickler syndrome, type 6
RS1201265438 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS1201268402 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1201299067 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1201327476 SERPINB6 Health Risk Likely pathogenic Rare genetic deafness, Melanoma
RS1201347192 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1201356843 CRB1 Health Risk Pathogenic Macular dystrophy, Macular dystrophy
RS1201375699 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1201400384 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1201426650 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1201430967 LGI4 Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1201433512 CERKL Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Retinal dystrophy
RS1201438079 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1201446573 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1201465216 CLCN7 Health Risk Likely pathogenic —
RS1201471880 DNAH1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1201473032 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1201491997 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS1201497625 CYFIP2 Health Risk Conflicting classifications of pathogenicity —
RS1201505647 PIEZO1 Health Risk Pathogenic —
RS1201516783 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1201521544 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1201531708 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1201536920 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1201544644 FMO3 Health Risk Pathogenic —
RS1201575289 NRXN1 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1201584921 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1201586094 MYO7A Health Risk Pathogenic Usher syndrome type 1B, Autosomal recessive nonsyndromic hearing loss 2
RS1201594317 NRROS Health Risk Likely pathogenic Seizures, early-onset
RS1201599033 P3H2 Health Risk Pathogenic —
RS1201602830 COL1A1 Health Risk Pathogenic Multiple epiphyseal dysplasia type 1, Osteogenesis imperfecta
RS1201612670 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1201613198 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1201626345 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1201637776 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1201638030 TNFRSF11B Health Risk Pathogenic —
RS1201643405 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1201644078 ZNF526 Health Risk Pathogenic Dentici-Novelli neurodevelopmental syndrome, Dentici-Novelli neurodevelopmental syndrome
RS1201646093 RP2 Health Risk Conflicting classifications of pathogenicity —
RS1201658186 SH3PXD2B Health Risk Conflicting classifications of pathogenicity —
RS1201662412 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1201666534 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS1201673032 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS1201691161 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS1201721504 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1201784742 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1201789108 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1201817272 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1201826827 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1201851975 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS1201852829 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS1201853761 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1201878175 ST3GAL3 Health Risk Likely pathogenic Prolonged neonatal jaundice, Severe intellectual disability
RS1201886200 HPS5 Health Risk Pathogenic —
RS1201890233 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1201905882 LOXHD1 Health Risk Likely pathogenic —
RS1201910133 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1201916615 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1201925443 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1201940872 MAK Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1201942473 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, ALPL-related disorder
RS1201949741 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS1201950108 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1201956507 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1201981092 CYS1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1201994217 AGPS Health Risk Conflicting classifications of pathogenicity AGPS-related disorder, AGPS-related disorder
RS1202006117 SLC12A3 Health Risk Likely pathogenic —
RS1202027636 SAG Health Risk Likely pathogenic —
RS1202062406 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1202062988 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1202078132 POLR1C Health Risk Conflicting classifications of pathogenicity —
RS1202079826 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1202099178 PI4KA Health Risk Likely pathogenic PI4KA-related disorder, PI4KA-related disorder
RS1202107642 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS1202110240 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1202115268 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1202130508 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1202130741 TTN Health Risk Conflicting classifications of pathogenicity Heart failure, Heart failure
RS1202166699 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1202167691 F2 Health Risk Pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS1202176045 LRP6 Health Risk Pathogenic —
RS1202181464 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1202202990 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1202211366 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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