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
RS202105428 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS202105574 HNF4A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS202105909 RNASET2 Health Risk Conflicting classifications of pathogenicity Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS202105931 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS202106192 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Congenital myasthenic syndrome 16
RS202106275 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS202106463 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS202106628 COL18A1 Health Risk Conflicting classifications of pathogenicity COL18A1-related disorder, COL18A1-related disorder
RS202107033 PDE2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202107577 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS202107716 CAMK2A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 53
RS202107738 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS202108064 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS202108152 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS202108457 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS202109186 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS202109348 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS202109365 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS202109366 MESP1 Health Risk Conflicting classifications of pathogenicity MESP1-related disorder, MESP1-related disorder
RS202109404 PLCB1 Health Risk Conflicting classifications of pathogenicity PLCB1-related disorder, Developmental and epileptic encephalopathy
RS202109433 ZNF687 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 6, Paget disease of bone 6
RS202109439 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS202109631 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS202109945 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS202109974 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS202110076 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder
RS202110155 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, RECON progeroid syndrome
RS202110208 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS202110306 HACE1 Health Risk Conflicting classifications of pathogenicity —
RS202110383 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS202110519 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS202110635 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS202110907 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS202111121 SLC30A10 Health Risk Conflicting classifications of pathogenicity Hypermanganesemia with dystonia, polycythemia
RS202111347 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, Malignant tumor of esophagus
RS202111641 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS202111717 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS202111813 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS202112145 LAMC3 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, LAMC3-related disorder
RS202112771 ALG8 Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 3 with or without kidney cysts, Familial cystic renal disease
RS202112856 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS202112906 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency
RS202113159 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS202113400 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS202113569 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202114203 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS202114467 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS202114540 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS202114767 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS202115147 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS202115157 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS202115210 FREM1 Health Risk Conflicting classifications of pathogenicity —
RS202115331 PRDM16 Health Risk Pathogenic Cardiomyopathy, dilated
RS202115635 NEK1 Health Risk Pathogenic; other Motor neuron disease, NEK1-related disorder
RS202115696 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS202115720 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, Inborn genetic diseases
RS202115941 LPP Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Acute myeloid leukemia
RS202116866 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS202116993 RLBP1 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Retinitis pigmentosa
RS202117044 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS202117321 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS202117532 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS202117698 PDE11A Health Risk Conflicting classifications of pathogenicity Pigmented nodular adrenocortical disease, primary
RS202118022 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS202118861 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta
RS202119177 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS202119213 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS202119238 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS202119339 LAMA5 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS202120144 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS202120461 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS202120583 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS202120615 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS202120684 SLC45A2 Health Risk Likely pathogenic Inborn genetic diseases, Oculocutaneous albinism type 4
RS202120786 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Cerebral cavernous malformation
RS202121299 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS202121327 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS202121443 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS202121539 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202121654 ANO6 Health Risk Conflicting classifications of pathogenicity —
RS202121941 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS202121993 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS202122047 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS202122336 PASD1 Health Risk Conflicting classifications of pathogenicity —
RS202122673 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS202122911 MYH7B Health Risk Conflicting classifications of pathogenicity MYH7B-related disorder, MYH7B-related disorder
RS202123183 SERPIND1 Health Risk Conflicting classifications of pathogenicity —
RS202123283 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS202123354 TGIF1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 4, Holoprosencephaly 4
RS202123650 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS202123909 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS202124080 KCNMA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS202124189 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Inborn genetic diseases
RS202124287 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS202124575 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS202124602 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS202125003 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS202125074 PSAP Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
RS202125140 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Inborn genetic diseases
RS202125318 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
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