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
RS121434342 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS121434343 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS121434344 CHD7 Health Risk Pathogenic CHARGE syndrome, HYPOGONADOTROPIC HYPOGONADISM 5 WITHOUT ANOSMIA
RS121434346 SLC6A19 Health Risk Pathogenic/Likely pathogenic Neutral 1 amino acid transport defect, Iminoglycinuria
RS121434347 SLC6A19 Health Risk Pathogenic Neutral 1 amino acid transport defect, Iminoglycinuria
RS121434348 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS121434349 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS121434350 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Typical Joubert syndrome MRI findings
RS121434351 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS121434352 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS121434353 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS121434354 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS121434356 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS121434357 ADAMTS10 Health Risk Pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS121434359 ADAMTS10 Health Risk Pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS121434360 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS121434361 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS121434362 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS121434363 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS121434364 GTF2H5 Health Risk Pathogenic/Likely pathogenic Trichothiodystrophy 3, photosensitive
RS121434365 GTF2H5 Health Risk Pathogenic Trichothiodystrophy 3, photosensitive
RS121434366 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS121434367 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS121434368 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS121434369 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS121434370 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS121434371 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS121434372 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS121434373 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS121434374 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 1
RS121434375 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS121434376 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS121434377 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS121434378 SETX Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 4, Distal spinal muscular atrophy
RS121434379 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS121434380 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS121434381 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS121434382 HMCN1 Health Risk Conflicting classifications of pathogenicity MACULAR DEGENERATION, AGE-RELATED
RS121434383 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS121434384 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS121434385 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS121434387 COG8 Health Risk Pathogenic COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS121434389 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia 7, Diamond-Blackfan anemia
RS121434390 TRPC6 Health Risk Pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS121434392 TRPC6 Health Risk Pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS121434393 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS121434394 TRPC6 Health Risk Pathogenic Focal segmental glomerulosclerosis 2, Nephrotic syndrome
RS121434395 TRPC6 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 2, Inborn genetic diseases
RS121434396 SLC25A12 Health Risk Pathogenic Developmental and epileptic encephalopathy, 39
RS121434402 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4
RS121434403 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1
RS121434404 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1
RS121434405 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS121434406 DIPK1A;RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS121434407 GLE1 Health Risk Pathogenic/Likely pathogenic Lethal congenital contracture syndrome 1, Inborn genetic diseases
RS121434408 GLE1 Health Risk Pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal arthrogryposis-anterior horn cell disease syndrome
RS121434409 GLE1 Health Risk Pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal arthrogryposis-anterior horn cell disease syndrome
RS121434410 PRKRA Health Risk Pathogenic/Likely pathogenic Dystonia 16, PRKRA-related disorder
RS121434411 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS121434412 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata
RS121434413 AGPS Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS121434415 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome
RS121434416 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS121434417 BMPR1B Health Risk Likely pathogenic Type A2 brachydactyly, Type A2 brachydactyly
RS121434418 BMPR1B Health Risk Pathogenic Type A2 brachydactyly, Acromesomelic dysplasia 3
RS121434419 BMPR1B Health Risk Likely pathogenic Type A2 brachydactyly, BMPR1B-related disorder
RS121434420 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS121434421 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS121434422 CERS1;GDF1;UPF1 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, multiple types
RS121434424 GDF1 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, GDF1-related disorder
RS121434425 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS121434426 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS121434427 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 6
RS121434428 NDUFS2 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 6
RS121434429 NDUFS2 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 6
RS121434430 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS121434432 CLCN7 Health Risk Pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS121434433 CLCN7 Health Risk Pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS121434434 CLCN7 Health Risk Pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS121434435 CLCN7 Health Risk Pathogenic Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4
RS121434436 CLCN7 Health Risk Pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS121434439 GNPAT Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS121434440 GNPAT Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata
RS121434441 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS121434442 KIF5A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 10, Spastic paraplegia
RS121434443 KIF5A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 10, Spastic paraplegia
RS121434444 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS121434447 TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome
RS121434448 HR Health Risk Pathogenic Alopecia universalis congenita, Alopecia universalis congenita
RS121434449 HR Health Risk Pathogenic Atrichia with papular lesions, Atrichia with papular lesions
RS121434450 HR Health Risk Pathogenic Atrichia with papular lesions, Atrichia with papular lesions
RS121434451 HR Health Risk Pathogenic Alopecia universalis congenita, Alopecia universalis congenita
RS121434453 MT-TE Health Risk Likely pathogenic Myopathy, mitochondrial
RS121434455 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
RS121434457 MT-TA Health Risk Likely pathogenic Myotonic dystrophy-like myopathy, Mitochondrial disease
RS121434459 PLOD2 Health Risk Pathogenic Bruck syndrome 2, Bruck syndrome 2
RS121434460 PLOD2 Health Risk Pathogenic Bruck syndrome 2, Bruck syndrome 2
RS121434461 PLOD2 Health Risk Likely pathogenic Bruck syndrome 2, Bruck syndrome 2
RS121434462 MT-TL2 Health Risk Likely pathogenic Mitochondrial encephalomyopathy, MELAS syndrome
RS121434470 MT-TI Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Asymmetric septal hypertrophy
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