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
RS587783457 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS587783458 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS587783459 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783460 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783461 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783463 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783464 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783465 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783466 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS587783467 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783469 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783470 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783471 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783473 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783474 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS587783475 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783476 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783477 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783478 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783479 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783480 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS587783481 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS587783482 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783483 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Intellectual disability
RS587783484 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783485 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783486 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783488 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783489 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783490 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783491 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783492 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783493 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783494 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783495 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783496 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783497 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783499 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783500 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783501 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783502 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, CREBBP-related disorder
RS587783503 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783504 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS587783505 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS587783506 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783507 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS587783508 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783509 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, CREBBP-related disorder
RS587783510 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783511 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783512 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS587783515 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS587783516 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS587783517 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS587783518 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783519 DCX Health Risk Pathogenic Ectopic tissue, Inborn genetic diseases
RS587783520 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783521 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783522 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783523 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783524 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783525 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783526 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783527 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783528 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783529 DCX Health Risk Conflicting classifications of pathogenicity Ectopic tissue, Neurodevelopmental disorder
RS587783530 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783531 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783532 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783533 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783534 DCX Health Risk Pathogenic Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
RS587783535 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783536 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783537 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783538 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783539 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783540 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783541 DCX Health Risk Pathogenic Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
RS587783542 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783544 DCX Health Risk Conflicting classifications of pathogenicity Ectopic tissue, Ectopic tissue
RS587783545 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783546 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783547 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783548 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783549 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783550 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783551 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783552 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783553 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783554 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783555 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783556 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783557 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783558 DCX Health Risk Pathogenic Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
RS587783559 DCX Health Risk Conflicting classifications of pathogenicity Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
RS587783560 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783561 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783562 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783563 DCX Health Risk Conflicting classifications of pathogenicity Ectopic tissue, Ectopic tissue
RS587783564 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
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