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
RS121908458 MYOT Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 3, Myofibrillar myopathy
RS121908461 MYOT Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS121908462 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Abnormality of the nervous system
RS121908463 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS121908464 ADGRG1 Health Risk Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS121908465 ADGRG1 Health Risk Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS121908466 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS121908467 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS121908468 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS121908469 ADAMTS13 Health Risk Pathogenic/Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS121908470 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Thrombotic thrombocytopenic purpura
RS121908471 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS121908472 ADAMTS13 Health Risk Pathogenic/Likely pathogenic Upshaw-Schulman syndrome, Thrombotic thrombocytopenic purpura
RS121908474 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS121908475 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS121908476 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS121908477 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS121908478 ADAMTS13 Health Risk Pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS121908479 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS121908480 SLC7A9 Health Risk Pathogenic/Likely pathogenic Cystinuria, SLC7A9-related disorder
RS121908482 SLC7A9 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS121908483 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS121908484 SLC7A9 Health Risk Pathogenic/Likely pathogenic Cystinuria, SLC7A9-related disorder
RS121908485 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS121908487 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS121908489 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Inborn genetic diseases
RS121908490 SGCE Health Risk Pathogenic Myoclonic dystonia 11, SGCE-related disorder
RS121908491 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS121908492 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS121908493 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS121908494 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Hyperekplexia 3
RS121908495 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS121908496 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS121908497 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS121908499 KISS1R Health Risk Conflicting classifications of pathogenicity Central precocious puberty 1, Hypogonadotropic hypogonadism 8 with or without anosmia
RS121908500 DLC1 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS121908501 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS121908502 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS121908508 SCO2 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS121908509 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS121908510 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS121908511 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Spastic paraparesis
RS121908512 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Tics
RS121908513 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS121908514 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS121908515 SPAST Health Risk Benign/Likely benign; other; risk factor Hereditary spastic paraplegia 4, Cerebral palsy
RS121908516 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS121908517 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS121908518 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS121908519 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS121908520 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS121908521 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS121908522 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS121908523 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS121908524 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS121908525 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS121908526 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS121908527 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS121908528 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS121908529 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS121908530 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS121908531 DNM1L Health Risk Pathogenic Encephalopathy, lethal
RS121908532 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Inborn genetic diseases
RS121908533 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS121908534 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS121908535 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Congenital portosystemic shunt
RS121908536 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS121908537 SUCLA2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS121908538 SUCLA2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS121908541 EIF2B5 Health Risk Pathogenic Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5
RS121908542 CLDN16 Health Risk Pathogenic HYPERCALCIURIA, CHILDHOOD
RS121908543 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS121908544 SCN4A Health Risk Pathogenic Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis
RS121908545 SCN4A Health Risk Conflicting classifications of pathogenicity Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis
RS121908546 SCN4A Health Risk Pathogenic/Likely pathogenic Paramyotonia congenita/myotonia congenita, Myotonia fluctuans
RS121908547 SCN4A Health Risk Pathogenic Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis
RS121908548 SCN4A Health Risk Pathogenic Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg
RS121908549 SCN4A Health Risk Pathogenic Myotonia congenita, atypical
RS121908550 SCN4A Health Risk Pathogenic Paramyotonia congenita of Von Eulenburg, SCN4A-related non-dystrophic myotonia
RS121908551 SCN4A Health Risk Likely pathogenic Paramyotonia congenita of Von Eulenburg, SCN4A-related disorder
RS121908552 SCN4A Health Risk Pathogenic/Likely pathogenic Potassium-aggravated myotonia, Hyperkalemic periodic paralysis
RS121908554 SCN4A Health Risk Likely pathogenic Paramyotonia congenita of Von Eulenburg, Paramyotonia congenita of Von Eulenburg
RS121908555 SCN4A Health Risk Pathogenic Hypokalemic periodic paralysis, type 2
RS121908556 SCN4A Health Risk Pathogenic/Likely pathogenic Normokalemic periodic paralysis, potassium-sensitive
RS121908557 SCN4A Health Risk Pathogenic Normokalemic periodic paralysis, potassium-sensitive
RS121908559 SCN4A Health Risk Pathogenic/Likely pathogenic Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis
RS121908560 SCN4A Health Risk Pathogenic Paramyotonia congenita/hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
RS121908561 SCN4A Health Risk Pathogenic Paramyotonia congenita of Von Eulenburg, Paramyotonia congenita of Von Eulenburg
RS121908562 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS121908563 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS121908564 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS121908566 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 11, Long QT syndrome
RS121908567 AXIN2 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS121908568 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS121908569 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS121908570 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS121908571 BCS1L Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 1, Mitochondrial complex III deficiency nuclear type 1
RS121908572 BCS1L Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
RS121908573 BCS1L Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome
RS121908574 BCS1L Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome
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