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
RS587783565 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783566 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783567 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783568 DCX Health Risk Conflicting classifications of pathogenicity Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
RS587783569 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783570 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783571 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783572 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783573 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783574 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783575 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783576 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783577 DCX Health Risk Pathogenic Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
RS587783578 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783579 DCX Health Risk Pathogenic Ectopic tissue, Abnormal cortical gyration
RS587783580 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783581 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783582 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783583 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783584 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783585 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783586 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783587 DCX Health Risk Likely pathogenic Ectopic tissue, Ectopic tissue
RS587783588 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783589 DCX Health Risk Pathogenic/Likely pathogenic Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
RS587783590 DCX Health Risk Pathogenic Ectopic tissue, Inborn genetic diseases
RS587783591 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783592 DCX Health Risk Pathogenic Ectopic tissue, Lissencephaly
RS587783593 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS587783594 DNM2 Health Risk Likely pathogenic Centronuclear myopathy, Centronuclear myopathy
RS587783595 DNM2 Health Risk Likely pathogenic Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS587783596 DNM2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate B, Centronuclear myopathy
RS587783597 DNM2 Health Risk Pathogenic/Likely pathogenic Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS587783598 DNM2 Health Risk Pathogenic/Likely pathogenic Centronuclear myopathy, Autosomal dominant centronuclear myopathy
RS587783599 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, MEND syndrome
RS587783600 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783601 EBP Health Risk Pathogenic/Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Nonpapillary renal cell carcinoma
RS587783602 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783603 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783604 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783605 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783606 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783607 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783608 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783609 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783610 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783611 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783612 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783613 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783614 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783615 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783616 EBP Health Risk Pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783617 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783618 EBP Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783619 EBP Health Risk Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant
RS587783623 ESCO2 Health Risk Conflicting classifications of pathogenicity Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS587783624 ESCO2 Health Risk Conflicting classifications of pathogenicity Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS587783625 EZH2 Health Risk Pathogenic Weaver syndrome, EZH2-related disorder
RS587783626 EZH2 Health Risk Pathogenic Weaver syndrome, EZH2-related disorder
RS587783627 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS587783629 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS587783631 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS587783635 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS587783636 FOXG1 Health Risk Pathogenic FOXG1 disorder, Rett syndrome
RS587783638 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS587783640 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, Intellectual disability
RS587783641 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS587783642 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS587783643 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS587783645 GJB2 Health Risk Likely pathogenic Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A
RS587783646 GJB2 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A
RS587783647 GJB2 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Autosomal recessive nonsyndromic hearing loss 1A
RS587783648 GP1BB Health Risk Likely pathogenic Bernard-Soulier syndrome, type B
RS587783651 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS587783652 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS587783653 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS587783654 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS587783655 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS587783656 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS587783657 ADGRG1 Health Risk Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS587783658 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS587783660 ADGRG1 Health Risk Pathogenic/Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS587783663 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS587783666 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS587783667 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS587783669 KCNJ11 Health Risk Likely pathogenic Diabetes mellitus, Diabetes mellitus
RS587783670 KCNJ11 Health Risk Pathogenic Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS587783671 KCNJ11 Health Risk Conflicting classifications of pathogenicity Neonatal insulin-dependent diabetes mellitus, Neonatal hypoglycemia
RS587783672 KCNJ11 Health Risk Pathogenic/Likely pathogenic Diabetes mellitus, Maturity-onset diabetes of the young type 13
RS587783673 KCNJ11 Health Risk Pathogenic/Likely risk allele Diabetes mellitus, Type 2 diabetes mellitus
RS587783674 KCNJ11 Health Risk Pathogenic Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS587783675 KCNJ11 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, Maturity-onset diabetes of the young
RS587783676 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS587783678 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS587783679 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS587783680 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS587783681 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783682 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783683 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS587783685 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Inborn genetic diseases
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