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
RS1555191595 SLC37A4 Health Risk Likely pathogenic —
RS1555191598 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555191604 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1555191665 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555191740 KMT2D Health Risk Pathogenic Kabuki syndrome 1, KMT2D-related disorder
RS1555191880 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type I
RS1555192051 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Neoplasm
RS1555192113 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555192192 KMT2D Health Risk Pathogenic —
RS1555192210 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555192218 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555192437 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555192443 KRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome 3, RASopathy
RS1555192451 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555192457 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555192531 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555192667 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555192676 KMT2D Health Risk Pathogenic —
RS1555192751 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, KMT2D-related disorder
RS1555192996 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555193345 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Neurodevelopmental disorder with hypotonia
RS1555193738 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555193755 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555193912 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555194026 KRAS Health Risk Likely pathogenic Noonan syndrome 3, RASopathy
RS1555194045 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Inborn genetic diseases
RS1555194236 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555194303 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555194443 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555194510 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555194630 STAC3 Health Risk Pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS1555194803 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, KMT2D-related disorder
RS1555194822 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555194979 VWF Health Risk Pathogenic von Willebrand disease type 2, von Willebrand disease type 2
RS1555195118 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555195158 KMT2D Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555195432 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1555195441 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555195442 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555195573 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555195579 KRAS Health Risk Likely pathogenic —
RS1555195933 KMT2D Health Risk Pathogenic —
RS1555196016 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555196084 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555196298 LEMD3 Health Risk Pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
RS1555196415 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555196459 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555196590 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555196720 KMT2D Health Risk Pathogenic —
RS1555196742 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, KMT2D-related disorder
RS1555196984 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555197101 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555197320 KMT2D Health Risk Pathogenic —
RS1555197682 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1555197738 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555197766 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS1555197885 PTS Health Risk Likely pathogenic —
RS1555198165 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198201 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS1555198232 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198233 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198244 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1555198263 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198318 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS1555198451 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198458 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198459 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198462 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198483 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198491 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555198494 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198495 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1555198521 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1555198522 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1555198590 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555198640 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555198655 KMT2D Health Risk Pathogenic —
RS1555198839 VWF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555198862 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS1555198886 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555198910 KMT2D Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555198921 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555200648 CEP290 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1555201136 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Familial melanoma
RS1555201260 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma
RS1555201269 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS1555201480 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS1555201791 VPS11 Health Risk Conflicting classifications of pathogenicity —
RS1555201796 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1555201919 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS1555202126 CEP290 Health Risk Likely pathogenic Occipital encephalocele, Cystic renal dysplasia
RS1555202494 CYP27B1 Health Risk Likely pathogenic —
RS1555202538 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202546 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202562 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202572 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202583 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202584 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1555202599 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1555202607 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
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