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
RS138331141 SCN3A Health Risk Conflicting classifications of pathogenicity SCN3A-related disorder, SCN3A-related disorder
RS138331646 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS1383321200 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1383324318 FKTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1X
RS138332774 UNC45A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138333004 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
RS1383333220 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS138333692 BRAF Health Risk Likely pathogenic RASopathy, Cardiovascular phenotype
RS138334226 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS1383346134 ANO5 Health Risk Pathogenic/Likely pathogenic Miyoshi muscular dystrophy 3, Gnathodiaphyseal dysplasia
RS138335295 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS138335335 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS138335735 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS138336847 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1383370693 NGLY1 Health Risk Pathogenic Inborn genetic diseases, Congenital disorder of deglycosylation
RS138338096 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Inborn genetic diseases
RS138339125 GIPC3 Health Risk Conflicting classifications of pathogenicity GIPC3-related disorder, GIPC3-related disorder
RS138339194 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS138339540 MCF2L Health Risk Conflicting classifications of pathogenicity —
RS1383399355 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1383401833 SPTA1 Health Risk Pathogenic —
RS138340807 DPYSL2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS138341349 MOCOS Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS1383418191 SLC16A1 Health Risk Pathogenic SLC16A1-related disorder, SLC16A1-related disorder
RS138342076 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS1383426312 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS1383430588 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS138343163 MSTN Health Risk Conflicting classifications of pathogenicity Myostatin-related muscle hypertrophy, MSTN-related disorder
RS138343171 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS1383432106 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia 1
RS138344683 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, ADGRG1-related disorder
RS1383447253 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1383450519 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS138345244 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS1383452692 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS138345617 RINT1 Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 3, Infantile liver failure syndrome 3
RS138346388 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome
RS1383465849 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1383481612 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1383485737 EGFR Health Risk Conflicting classifications of pathogenicity Lung carcinoma, EGFR-related lung cancer
RS1383490784 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS1383495180 CTNNA1 Health Risk Likely pathogenic —
RS138350285 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS138350291 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1383503951 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS138350940 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ATR-related disorder
RS138351067 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1383515185 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS1383525805 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1383530983 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS138354490 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Orofaciodigital syndrome type 14
RS138354681 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Nephronophthisis
RS1383556063 PKD1 Health Risk Pathogenic —
RS1383559519 CHRND Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS138357301 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
RS138357499 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS138357595 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1383577532 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS138357965 TNNI3K Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Atrial conduction disease
RS138357977 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS138358075 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138358319 C2 Health Risk Conflicting classifications of pathogenicity —
RS138358708 WDR81 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, intellectual disability
RS1383588318 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS1383589957 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS138359497 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Age related macular degeneration 2
RS138360045 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS138360770 CTSK Health Risk Conflicting classifications of pathogenicity Pyknodysostosis, Pyknodysostosis
RS138363524 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS1383641309 JAM2 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS138364213 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1383645357 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138364911 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS138364932 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS1383649750 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS1383652187 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1383657728 PKD1 Health Risk Likely pathogenic Multiple renal cysts, Pancreatic cysts
RS1383658117 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1383664881 TRMT10A Health Risk Pathogenic Microcephaly, short stature
RS138366584 ZNF33B Health Risk Conflicting classifications of pathogenicity —
RS1383668573 MAK Health Risk Pathogenic —
RS138367112 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS138367627 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1383679424 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS138368397 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1383691293 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS138370967 ROBO4 Health Risk Likely pathogenic Ascending tubular aorta aneurysm, Bicuspid aortic valve
RS138370992 TTLL5 Health Risk Pathogenic Cone-rod dystrophy 19, Retinal dystrophy
RS138371054 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS1383712865 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS138372388 VPS33B Health Risk Conflicting classifications of pathogenicity VPS33B-related disorder, Arthrogryposis
RS1383726308 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS138372705 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Inborn genetic diseases
RS1383727273 KAT6B Health Risk Conflicting classifications of pathogenicity Autosomal dominant KAT6B-related disorders, Genitopatellar syndrome
RS138373022 IFIH1 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS138373177 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 2
RS138373307 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1383734078 ST3GAL5 Health Risk Pathogenic/Likely pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS138374063 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS138374374 FOXP2 Health Risk Conflicting classifications of pathogenicity Childhood apraxia of speech, Childhood apraxia of speech
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