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
RS1664662355 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1664667136 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS1664669402 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1664669480 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1664671663 CRB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 12
RS1664678030 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664680011 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1664683759 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1664686689 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 8
RS1664698331 DPM3 Health Risk Conflicting classifications of pathogenicity DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
RS1664708676 OTOF Health Risk Pathogenic —
RS1664767158 CRB1 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 12
RS1664767468 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1664767982 CRB1 Health Risk Likely pathogenic Pigmented paravenous retinochoroidal atrophy, Pigmented paravenous retinochoroidal atrophy
RS1664775193 CRB1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1664775504 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1664779239 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS1664789878 OTOF Health Risk Likely pathogenic —
RS1664810877 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1664816177 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1664838877 USH2A Health Risk Pathogenic —
RS1664842535 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1664846221 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1664846292 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1664846558 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1664878565 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1664944582 ADAM17 Health Risk Conflicting classifications of pathogenicity Inflammatory skin and bowel disease, neonatal
RS1664975368 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1665045248 CRB1 Health Risk Pathogenic —
RS1665063400 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1665066272 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1665070172 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1665071224 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1665084413 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1665086143 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1665093194 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1665095139 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1665095845 PAPPA2 Health Risk Pathogenic —
RS1665099725 CRB1 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 12
RS1665100275 OTOF Health Risk Pathogenic —
RS1665100409 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1665100553 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1665102146 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1665112963 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1665113651 FLVCR1 Health Risk Conflicting classifications of pathogenicity —
RS1665120314 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1665126718 OTOF Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS1665130400 FLVCR1 Health Risk Pathogenic —
RS1665132445 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 2
RS1665134920 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1665136420 USH2A Health Risk Pathogenic —
RS1665160360 OTOF Health Risk Pathogenic —
RS1665161757 OTOF Health Risk Pathogenic —
RS1665242283 OTOF Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS1665274096 MTR Health Risk Likely pathogenic —
RS1665277406 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1665279918 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1665280076 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1665281440 ADAM17 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1665282478 CRB1 Health Risk Pathogenic/Likely pathogenic Pigmented paravenous retinochoroidal atrophy, Retinitis pigmentosa 12
RS1665282720 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS1665288663 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1665364799 OTOF Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS1665448415 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS1665453379 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1665467187 IVNS1ABP Health Risk Pathogenic Immunodeficiency 70, Immunodeficiency 70
RS1665467473 GALNT2 Health Risk Pathogenic Congenital disorder of glycosylation, type iit
RS1665481687 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1665482895 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1665487115 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1665487563 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1665488161 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1665489039 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1665516024 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS1665516730 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1665569087 TPO Health Risk Pathogenic —
RS1665610030 COL11A1 Health Risk Likely pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS1665622456 OTOF Health Risk Pathogenic —
RS1665625477 OTOF Health Risk Likely pathogenic —
RS1665637127 NDUFS2 Health Risk Pathogenic —
RS1665660543 SOX11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS1665661372 SOX11 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS1665661722 SOX11 Health Risk Likely pathogenic —
RS1665662335 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS1665672573 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1665680497 SOX11 Health Risk Likely pathogenic —
RS1665684529 ASH1L Health Risk Pathogenic/Likely pathogenic ASH1L-related disorder, Intellectual disability
RS1665711818 NFIA Health Risk Likely pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS1665880829 ADCY10 Health Risk Pathogenic —
RS1665902242 ASH1L Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1665904910 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS1665944825 OTOF Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1665946379 OTOF Health Risk Pathogenic —
RS1665948819 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1665963551 SRD5A2 Health Risk Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS1665977328 PTPRC Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1665984696 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS1666006480 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1666014535 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1666017894 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
« Prev 1 ... 1172 1173 1174 1175 1176 1177 1178 ... 4509 Next »

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

Get Started Free →