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
RS267608596 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608597 MECP2 Health Risk Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Intellectual disability
RS267608600 MECP2 Health Risk Pathogenic Rett syndrome, Inborn genetic diseases
RS267608601 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608603 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608604 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608606 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608607 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608609 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS267608610 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608612 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608613 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608614 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608615 MECP2 Health Risk Pathogenic/Likely pathogenic Encephalopathy, neonatal severeMental retardation
RS267608617 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608618 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608623 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, CDKL5 disorder
RS267608624 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608625 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608627 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608634 MECP2 Health Risk Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome
RS267608637 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS267608638 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608640 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608641 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS267608642 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS267608643 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608644 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS267608646 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, CDKL5 disorder
RS267608647 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608648 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608650 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, Angelman syndrome-like
RS267608651 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608653 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608654 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608655 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608656 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608657 CDKL5 Health Risk Likely pathogenic Atypical Rett syndrome, CDKL5 disorder
RS267608659 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608660 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608661 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS267608662 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608663 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS267608664 CDKL5;RS1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS267608668 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS267608670 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS267608671 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS267608673 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS267608674 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS267608677 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS267608678 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS267608679 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS267608681 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS267608682 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS267608683 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS267608684 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS267608685 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS267608686 POLR3B Health Risk Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS267608687 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, POLR-related leukodystrophy
RS267608688 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS267608689 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS268 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipidemia, familial combined
RS2693122 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS2697798 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS269860 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS2710102 CNTNAP2 Health Risk risk factor Autism, susceptibility to
RS2723341 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS2734278 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS273585616 ZNF469 Health Risk Pathogenic Keratoconus 1, Keratoconus 1
RS273585618 ZNF469 Health Risk Pathogenic Keratoconus 1, Brittle cornea syndrome 1
RS273585620 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Cardiovascular phenotype
RS273585621 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS273585622 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Ehlers-Danlos syndrome
RS273585623 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Keratoconus
RS273585625 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Brittle cornea syndrome 1
RS273585627 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Cardiovascular phenotype
RS273585629 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Cardiovascular phenotype
RS273585632 ZNF469 Health Risk Likely pathogenic Keratoconus 1, Keratoconus 1
RS273585633 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Ehlers-Danlos syndrome
RS273585637 ZNF469 Health Risk Likely pathogenic Keratoconus 1, Keratoconus 1
RS273585644 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2735940 TERT Health Risk Uncertain significance; association Chronic osteomyelitis, Coronary artery disease
RS2736191 NCR3 Health Risk Pathogenic; risk factor Malaria, mild
RS2738442 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS273897652 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273897653 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273897655 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS273897656 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273897657 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273897659 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273897660 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS273897662 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273897663 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273897664 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273897665 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273898671 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS273898673 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273898674 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS273898675 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS273898679 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
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