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
RS2525806571 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS2525817360 DARS2 Health Risk Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS2525817489 DARS2 Health Risk Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS2525834257 ATP1A1 Health Risk Likely pathogenic Hypomagnesemia, seizures
RS2525836270 TBX19 Health Risk Likely pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS2525836300 TBX19 Health Risk Likely pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS2525846742 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS2525849428 DARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2525861491 ATP1A1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-tooth disease, axonal
RS2525868703 DARS2 Health Risk Pathogenic —
RS2525873559 ARID1A Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2525878459 DARS2 Health Risk Likely pathogenic —
RS2525878524 DARS2 Health Risk Pathogenic —
RS2525888488 LAMC2 Health Risk Likely pathogenic —
RS2525903731 GORAB Health Risk Pathogenic —
RS2525903868 GORAB Health Risk Pathogenic —
RS2525904182 GORAB Health Risk Pathogenic —
RS2525929426 GORAB Health Risk Pathogenic —
RS2525929880 GORAB Health Risk Likely pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS2525938436 ANO6 Health Risk Pathogenic —
RS2525938825 DARS2 Health Risk Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS2525941193 GORAB Health Risk Pathogenic —
RS2525948184 GORAB Health Risk Pathogenic —
RS2525948734 GORAB Health Risk Pathogenic —
RS2525968808 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525970728 GORAB Health Risk Pathogenic —
RS2525976456 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2525976672 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2525977235 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2525977277 DMD Health Risk Likely pathogenic —
RS2526006147 LAMC2 Health Risk Likely pathogenic —
RS2526018764 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS2526020363 LAMC2 Health Risk Pathogenic —
RS2526020778 LAMC2 Health Risk Pathogenic —
RS2526031776 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS2526031953 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2
RS2526032198 LAMC2 Health Risk Pathogenic —
RS2526032244 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2526035615 TPM3 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy with fiber type disproportion
RS2526037706 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526037804 LAMC2 Health Risk Pathogenic —
RS2526038482 TPM3 Health Risk Pathogenic Congenital myopathy 4B, autosomal recessive
RS2526038543 TPM3 Health Risk Pathogenic Congenital myopathy 4A, autosomal dominant
RS2526042624 LAMC2 Health Risk Likely pathogenic —
RS2526043438 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526043721 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526043994 ADCY10 Health Risk Pathogenic —
RS2526044331 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526054200 LAMC2 Health Risk Pathogenic —
RS2526054443 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526055328 TPM3 Health Risk Likely pathogenic Congenital myopathy 4B, autosomal recessive
RS2526056353 TPM3 Health Risk Pathogenic/Likely pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS2526057284 ASH1L Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2526060163 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526060515 LAMC2 Health Risk Pathogenic —
RS2526060814 LAMC2 Health Risk Pathogenic —
RS2526060945 TPM3 Health Risk Likely pathogenic —
RS2526064853 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526065086 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526068932 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526069963 LAMC2 Health Risk Pathogenic —
RS2526082204 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526082649 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526082974 LAMC2 Health Risk Pathogenic —
RS2526088227 LAMC2 Health Risk Pathogenic —
RS2526088461 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526088480 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526088692 LAMC2 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 3A
RS2526091818 LAMC2 Health Risk Pathogenic —
RS2526093353 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526093455 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2526095429 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2526095691 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2526095742 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Nonpapillary renal cell carcinoma
RS2526100332 LAMC2 Health Risk Pathogenic —
RS2526103665 NOTCH2 Health Risk Likely pathogenic NOTCH2-related disorder, NOTCH2-related disorder
RS2526104121 NOTCH2 Health Risk Pathogenic —
RS2526105965 CASQ2 Health Risk Pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS2526105966 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2526106694 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2526107620 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2526107661 LAMC2 Health Risk Pathogenic —
RS2526107671 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526107938 NOTCH2 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2526108627 LAMC2 Health Risk Pathogenic —
RS2526108690 LAMC2 Health Risk Pathogenic —
RS2526108695 NOTCH2 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS2526112427 TUFT1 Health Risk Pathogenic Woolly hair-skin fragility syndrome, Woolly hair-skin fragility syndrome
RS2526112692 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2526112731 LAMC2 Health Risk Pathogenic —
RS2526112802 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS2526112913 NOTCH2 Health Risk Pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS2526113347 LAMC2 Health Risk Pathogenic —
RS2526113458 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526113536 LAMC2 Health Risk Pathogenic —
RS2526117083 LAMC2 Health Risk Pathogenic —
RS2526117177 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526117873 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526118497 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2526118589 LAMC2 Health Risk Pathogenic —
« Prev 1 ... 2350 2351 2352 2353 2354 2355 2356 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →