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
RS587784421 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784422 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS587784423 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784425 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS587784426 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS587784427 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS587784429 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS587784431 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS587784437 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS587784438 SPTAN1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 5
RS587784439 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS587784440 SPTAN1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 5
RS587784443 SRCAP Health Risk Conflicting classifications of pathogenicity SRCAP-related disorder, SRCAP-related disorder
RS587784444 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Floating-Harbor syndrome
RS587784452 STIL Health Risk Likely pathogenic Microcephaly 7, primary
RS587784453 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS587784454 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS587784455 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS587784458 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784459 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784460 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784462 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784463 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784464 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Autism spectrum disorder
RS587784465 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784466 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784468 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784469 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784470 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS587784475 TSEN54 Health Risk Pathogenic Olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia
RS587784476 TSEN54 Health Risk Pathogenic/Likely pathogenic Olivopontocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS587784477 TSEN54 Health Risk Likely pathogenic Olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia
RS587784478 TSEN54 Health Risk Pathogenic Olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia
RS587784479 TSEN54 Health Risk Pathogenic Olivopontocerebellar hypoplasia, Olivopontocerebellar hypoplasia
RS587784481 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784482 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Abnormality of neuronal migration
RS587784483 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS587784484 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784485 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784486 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784488 TUBA1A Health Risk Pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784489 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784491 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Inborn genetic diseases
RS587784492 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784493 TUBA1A Health Risk Likely pathogenic —
RS587784494 TUBA1A Health Risk Pathogenic/Likely pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784495 TUBA1A Health Risk Pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784497 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS587784498 TUBB2B Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS587784499 TUBB2B Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS587784500 TUBB2B Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS587784502 TUBB2B Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS587784504 TUBB3 Health Risk Conflicting classifications of pathogenicity —
RS587784505 TUBB3 Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Fibrosis of extraocular muscles
RS587784506 TUBB3 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Fibrosis of extraocular muscles
RS587784508 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784509 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784512 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS587784513 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784514 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784515 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784516 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS587784517 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Angelman syndrome
RS587784518 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS587784519 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784520 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784521 UBE3A Health Risk Likely pathogenic Angelman syndrome, Inborn genetic diseases
RS587784523 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Angelman syndrome
RS587784524 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Inborn genetic diseases
RS587784526 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784527 UBE3A Health Risk Pathogenic Angelman syndrome, Inborn genetic diseases
RS587784528 UBE3A Health Risk Conflicting classifications of pathogenicity Angelman syndrome, Angelman syndrome
RS587784529 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784530 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784531 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS587784532 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784533 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS587784534 UBE3A Health Risk Pathogenic/Likely pathogenic Angelman syndrome, Angelman syndrome
RS587784535 UGT1A1 Health Risk Pathogenic/Likely pathogenic Hyperbilirubinemia, Hyperbilirubinemia
RS587784537 UGT1A1 Health Risk Conflicting classifications of pathogenicity Hyperbilirubinemia, Hyperbilirubinemia
RS587784541 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS587784542 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS587784543 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS587784544 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS587784546 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS587784548 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS587784549 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS587784553 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS587784554 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS587784555 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS587784556 WDR62 Health Risk Pathogenic —
RS587784558 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS587784562 WNT5A Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS587784563 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS587784565 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587784566 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Intellectual disability
RS587784568 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587784569 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS587784570 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS587784571 ZEB2 Health Risk Pathogenic/Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
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