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
RS587779362 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587779363 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS587779364 BRCA2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS587779365 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587779366 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587779368 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587779380 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS587779381 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS587779388 AP4B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 47, Inborn genetic diseases
RS587779390 MYH7 Health Risk Pathogenic MYH7-related skeletal myopathy, MYH7-related skeletal myopathy
RS587779391 MYH7 Health Risk Pathogenic MYH7-related skeletal myopathy, MYH7-related skeletal myopathy
RS587779392 MYH7 Health Risk Likely pathogenic MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS587779393 MYH7 Health Risk Pathogenic MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS587779396 MYH7 Health Risk Pathogenic Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy
RS587779397 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS587779398 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS587779399 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS587779400 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS587779401 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS587779402 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS587779403 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS587779404 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS587779405 GM2A Health Risk Pathogenic Tay-Sachs disease, variant AB
RS587779406 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Inborn genetic diseases
RS587779407 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS587779408 SMPD1 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS587779410 SLC17A5 Health Risk Conflicting classifications of pathogenicity Sialic acid storage disease, severe infantile type
RS587779411 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS587779413 TCIRG1 Health Risk Likely pathogenic —
RS587779414 MYH7 Health Risk Pathogenic MYH7-related skeletal myopathy, MYH7-related skeletal myopathy
RS587779415 MYH7 Health Risk Pathogenic MYH7-related skeletal myopathy, MYH7-related skeletal myopathy
RS587779416 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779417 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779418 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779419 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779420 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779421 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779422 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779423 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779424 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779425 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779426 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779427 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779428 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779429 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779430 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779431 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779432 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779433 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779434 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779435 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779436 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779437 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779438 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779439 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779440 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779441 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779442 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779443 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779444 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779445 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779446 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779447 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779448 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779449 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779450 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779451 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779452 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779453 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779454 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779455 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779456 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779457 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779458 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779459 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779460 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779461 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779462 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779463 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779464 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779465 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779466 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779467 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779468 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779469 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779470 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779471 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779472 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779473 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779474 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779475 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779476 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779477 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779478 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779479 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779480 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS587779481 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779482 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779483 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS587779484 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
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