SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS111033481 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS111033482 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033483 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS111033484 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS111033486 MYO7A Health Risk Pathogenic Usher syndrome, Autosomal recessive nonsyndromic hearing loss 2
RS111033487 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS111033488 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS111033489 CDH23 Health Risk Conflicting classifications of pathogenicity
RS111033490 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS111033493 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS111033495 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS111033497 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS111033499 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS111033504 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS111033507 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS111033508 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, USH2A-related disorder
RS111033509 CDH23 Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1D
RS111033510 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS111033511 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS111033514 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS111033515 USH2A Health Risk Conflicting classifications of pathogenicity
RS111033516 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS111033517 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS111033518 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome
RS111033519 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS111033522 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS111033525 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS111033526 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 2A
RS111033527 SLC26A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS111033529 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 39
RS111033537 TMPRSS3 Health Risk Likely pathogenic
RS111033538 MCEE Health Risk Pathogenic Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia
RS111033539 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1
RS111033541 UGT1A1 Health Risk Likely pathogenic Crigler-Najjar syndrome, type II
RS111033542 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS111033543 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033544 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033546 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033547 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033548 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033549 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033550 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033551 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033552 COL10A1 Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033553 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033554 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033556 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS111033558 HFE Health Risk Pathogenic Hemochromatosis type 1, Hemochromatosis type 1
RS111033559 PLN Health Risk Pathogenic Dilated cardiomyopathy 1P, Primary dilated cardiomyopathy
RS111033560 PLN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18
RS111033563 HFE Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 1, Hereditary hemochromatosis
RS111033565 PRSS1 Health Risk Pathogenic/Likely pathogenic Hereditary pancreatitis, PRSS1-related disorder
RS111033566 PRSS1 Health Risk Pathogenic Hereditary pancreatitis, Trypsinogen deficiency
RS111033567 PRSS1 Health Risk Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS111033568 PRSS1 Health Risk Pathogenic Hereditary pancreatitis, PRSS1-related disorder
RS111033570 TRIM32 Health Risk Pathogenic Sarcotubular myopathy, Myopathy
RS111033571 TRIM32 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 11, Bardet-Biedl syndrome
RS111033572 TWNK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS111033573 TWNK Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS111033574 TWNK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS111033575 TWNK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS111033576 TWNK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS111033577 TWNK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS111033578 C1QTNF5 Health Risk Pathogenic/Likely pathogenic Late-onset retinal degeneration, Retinal dystrophy
RS111033579 TWNK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS111033580 CD3D Health Risk Pathogenic Immunodeficiency 19, Immunodeficiency 19
RS111033581 CD3D Health Risk Pathogenic Immunodeficiency 19, Immunodeficiency 19
RS111033588 NDUFS8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 2
RS111033589 DHH Health Risk Pathogenic 46, XY sex reversal 7
RS111033590 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS111033591 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS111033592 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS111033593 RDH5 Health Risk Pathogenic Fundus albipunctatus, autosomal recessive
RS111033594 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS111033595 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS111033596 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS111033597 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS111033603 HBA2 Health Risk Likely pathogenic alpha Thalassemia, alpha Thalassemia
RS111033606 HBA2 Health Risk Pathogenic Abnormal hemoglobin, Abnormal hemoglobin
RS111033608 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS111033609 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS111033611 TGFB1 Health Risk Pathogenic Diaphyseal dysplasia, Diaphyseal dysplasia
RS111033612 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, Intellectual disability
RS111033613 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, FACTOR VIII (EAST HARTFORD)
RS111033614 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor VIII deficiency disease, Abnormality of coagulation
RS111033615 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS111033616 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS111033617 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, Nonpapillary renal cell carcinoma
RS111033618 IL2RG Health Risk Likely pathogenic Combined immunodeficiency, X-linked
RS111033619 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS111033620 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS111033621 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS111033622 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS111033623 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative syndrome
RS111033624 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS111033625 SH2D1A Health Risk Likely pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS111033626 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS111033628 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS111033629 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS111033630 SH2D1A Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
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