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
RS1557374482 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557374667 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Abnormality of the musculature
RS1557380496 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557380616 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS1557380670 DMD Health Risk Pathogenic —
RS1557380685 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557383751 DMD Health Risk Pathogenic —
RS1557383761 DMD Health Risk Pathogenic —
RS1557396600 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557396632 DMD Health Risk Pathogenic —
RS1557412510 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS1557412659 MTM1 Health Risk Pathogenic —
RS1557413092 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1557413783 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1557414505 MTM1 Health Risk Pathogenic —
RS1557414513 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1557414792 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1557414802 MTM1 Health Risk Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1557415137 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1557437034 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS1557438039 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS1557438186 HPDL Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557444106 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557445467 PGM1 Health Risk Likely pathogenic —
RS1557446524 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1557447255 DHDDS Health Risk Pathogenic Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities
RS1557451154 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1557451662 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557452216 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557457623 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1557458134 ATAD3A Health Risk Pathogenic Harel-Yoon syndrome, Pontocerebellar hypoplasia
RS1557458426 CLCNKA Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1557458562 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1557458593 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1557459395 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557460984 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557461219 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557461427 RERE Health Risk Pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS1557461836 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557464361 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557465450 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557466604 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1557466834 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1557467049 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1557468189 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 3
RS1557468846 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557470829 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557472348 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557472384 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1557474374 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557474906 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1557478316 VPS13D Health Risk Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Inborn genetic diseases
RS1557479812 GALE Health Risk Pathogenic/Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS1557481282 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1557482167 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557484399 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557485170 BSND Health Risk Pathogenic —
RS1557485553 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557486313 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557487125 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557487179 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557487475 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557487793 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557488140 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1557491929 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557492431 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1557492581 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1557497881 GLMN Health Risk Pathogenic Blue rubber bleb nevus, Blue rubber bleb nevus
RS1557500194 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1557500853 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1557506070 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1557507208 MYSM1 Health Risk Pathogenic Bone marrow failure syndrome 4, Bone marrow failure syndrome 4
RS1557508272 CTRC Health Risk Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS1557508308 PADI3 Health Risk Pathogenic Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia
RS1557510081 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1557515779 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS1557518298 MYSM1 Health Risk Pathogenic Bone marrow failure syndrome 4, Bone marrow failure syndrome 4
RS1557519001 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 2
RS1557521949 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1557522794 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Hereditary motor neuron disease
RS1557522849 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A2
RS1557523211 USP24 Health Risk Likely pathogenic Short stature, Short stature
RS1557524703 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1557524814 MFN2 Health Risk Likely pathogenic —
RS1557525000 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1557525005 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1557525153 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1557531984 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1557537223 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1557537346 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1557539004 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1557539119 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1557539450 PUM1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 47, Inborn genetic diseases
RS1557541619 PUM1 Health Risk Likely pathogenic Spinocerebellar ataxia 47, PUM1-associated developmental disability-ataxia-seizure syndrome
RS1557551678 CLDN19 Health Risk Pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS1557561340 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS1557562343 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1557563410 ST3GAL3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 15
RS1557567563 ORC1 Health Risk Pathogenic —
RS1557569037 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
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