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
RS2496570753 PTS Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Noonan syndrome 1
RS2496570868 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496570916 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496571287 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496571358 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496571415 RASGRP2 Health Risk Pathogenic —
RS2496571494 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2496572258 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia
RS2496573317 MYO7A Health Risk Pathogenic —
RS2496573397 MYO7A Health Risk Pathogenic See cases, See cases
RS2496573808 MYO7A Health Risk Pathogenic —
RS2496576349 RASGRP2 Health Risk Likely pathogenic —
RS2496576381 MYO7A Health Risk Pathogenic —
RS2496576481 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496577975 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Leucine-induced hypoglycemia
RS2496578182 ABCC8 Health Risk Pathogenic —
RS2496578248 MYO7A Health Risk Pathogenic —
RS2496578365 ABCC8 Health Risk Pathogenic —
RS2496578406 SPTBN2 Health Risk Pathogenic —
RS2496578500 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Retinal dystrophy
RS2496578563 MYO7A Health Risk Pathogenic —
RS2496578693 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2496581445 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496581613 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496581880 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496582044 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496584464 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496584780 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496584958 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496585397 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496585568 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496586476 ABCC8 Health Risk Likely pathogenic —
RS2496586530 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496587224 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496587254 ABCC8 Health Risk Pathogenic —
RS2496587394 ABCC8 Health Risk Pathogenic —
RS2496591603 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496591844 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496591869 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496592074 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496592286 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496593562 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS2496597497 LRP5 Health Risk Pathogenic —
RS2496597718 C2CD3 Health Risk Pathogenic —
RS2496598396 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS2496598847 LRP5 Health Risk Pathogenic —
RS2496599704 LRP5 Health Risk Likely pathogenic LRP5-related primary osteoporosis, LRP5-related primary osteoporosis
RS2496600059 LRP5 Health Risk Likely pathogenic —
RS2496600373 LRP5 Health Risk Pathogenic/Likely pathogenic Exudative vitreoretinopathy 4, Osteoporosis with pseudoglioma
RS2496613617 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496617094 PHF21A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2496618179 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2496618496 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
RS2496618758 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS2496618830 TYR Health Risk Pathogenic —
RS2496619051 TYR Health Risk Pathogenic —
RS2496619764 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496620348 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496620499 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496621154 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496621306 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496621601 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496621683 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496621741 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496621808 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2496622051 LRP5 Health Risk Pathogenic —
RS2496622561 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496622595 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496622641 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496626128 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2496626872 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496627345 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2496630751 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496631337 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496631494 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496632149 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS2496636048 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496636315 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496636484 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496636643 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496637381 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496637644 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496639193 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2496639301 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496639536 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496639945 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496644540 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496645400 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2496646864 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496647256 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2496647974 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2496647995 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496648248 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496648421 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496648756 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496650595 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496652253 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2496652464 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
RS2496652676 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2496653343 MRE11 Health Risk Pathogenic Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder
« Prev 1 ... 2150 2151 2152 2153 2154 2155 2156 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →