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
RS121434220 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS121434222 ATM Health Risk Conflicting classifications of pathogenicity Mantle cell lymphoma, Ataxia-telangiectasia syndrome
RS121434223 ATM Health Risk Likely pathogenic T-cell prolymphocytic leukemia, Ataxia-telangiectasia syndrome
RS121434224 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome
RS121434225 IRF6 Health Risk Likely pathogenic Popliteal pterygium syndrome, Popliteal pterygium syndrome
RS121434226 IRF6 Health Risk Pathogenic/Likely pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS121434227 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Van der Woude syndrome
RS121434228 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS121434229 IRF6 Health Risk Conflicting classifications of pathogenicity Van der Woude syndrome 1, Van der Woude syndrome
RS121434230 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Van der Woude syndrome 1
RS121434231 IRF6 Health Risk Pathogenic Van der Woude syndrome 1, Popliteal pterygium syndrome
RS121434232 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS121434233 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, ALOXE3-related disorder
RS121434234 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS121434236 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 13, Retinal dystrophy
RS121434238 PRPF8 Health Risk Pathogenic Retinitis pigmentosa 13, Retinal dystrophy
RS121434239 PRPF8 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 13, Retinal dystrophy
RS121434240 PRPF8 Health Risk Pathogenic Retinitis pigmentosa 13, Retinitis pigmentosa 13
RS121434241 PRPF3 Health Risk Pathogenic Retinitis pigmentosa 18, Retinal dystrophy
RS121434242 PRPF3 Health Risk Pathogenic Retinitis pigmentosa 18, Retinal dystrophy
RS121434243 PRPF3 Health Risk Pathogenic Retinitis pigmentosa 18, Retinitis pigmentosa 18
RS121434244 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS121434245 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, Urogenital tract malformation
RS121434246 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS121434247 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, SRD5A2-related disorder
RS121434248 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS121434249 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, Differences in sex development
RS121434250 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, SRD5A2-related disorder
RS121434251 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS121434252 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS121434253 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS121434254 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS121434255 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS121434256 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS121434258 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS121434259 NF2 Health Risk Pathogenic Meningioma, Neurofibromatosis
RS121434260 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS121434261 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS121434262 CDC73 Health Risk Pathogenic Hyperparathyroidism 2 with jaw tumors, Hereditary cancer-predisposing syndrome
RS121434263 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS121434264 CDC73 Health Risk Likely pathogenic Hyperparathyroidism 1, Parathyroid carcinoma
RS121434265 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS121434272 PROK2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder
RS121434274 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS121434275 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS121434277 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS121434278 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS121434279 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS121434280 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
RS121434281 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS121434282 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS121434283 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS121434284 IVD Health Risk Pathogenic Isovaleric acidemia, type I
RS121434285 IVD Health Risk Pathogenic/Likely pathogenic Isovaleric acidemia, type I
RS121434286 CLN3 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS121434287 SLC39A4 Health Risk Pathogenic/Likely pathogenic Hereditary acrodermatitis enteropathica, SLC39A4-related disorder
RS121434288 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS121434289 SLC39A4 Health Risk Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS121434290 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS121434291 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS121434292 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS121434293 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS121434294 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Abnormality of metabolism/homeostasis
RS121434295 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS121434296 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS121434297 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS121434301 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS121434302 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS121434304 GRM6 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS121434305 MCPH1 Health Risk Pathogenic Microcephaly 1, primary
RS121434306 LPAR6 Health Risk Likely pathogenic Hypotrichosis 8, Hypotrichosis 8
RS121434307 LPAR6 Health Risk Pathogenic/Likely pathogenic Wooly hair, autosomal recessive 1
RS121434308 LPAR6 Health Risk Likely pathogenic Hypotrichosis 8, Hypotrichosis 8
RS121434309 LPAR6 Health Risk Pathogenic/Likely pathogenic Hypotrichosis 8, Hypotrichosis 8
RS121434310 RAB3GAP2 Health Risk Pathogenic Martsolf syndrome, Martsolf syndrome 1
RS121434311 CPAP Health Risk Pathogenic Microcephaly 6, primary
RS121434312 SPRED1 Health Risk Pathogenic Legius syndrome, Noonan syndrome and Noonan-related syndrome
RS121434313 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS121434314 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS121434315 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS121434316 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS121434317 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS121434318 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS121434319 CYP17A1 Health Risk Pathogenic/Likely pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS121434322 CBLIF Health Risk Likely pathogenic Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS121434323 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome
RS121434324 ERCC8;NDUFAF2 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome
RS121434325 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome
RS121434326 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, UV-sensitive syndrome 2
RS121434331 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS121434332 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS121434333 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS121434334 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS121434335 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS121434336 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS121434337 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS121434338 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS121434339 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS121434340 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS121434341 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
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