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
RS1847560717 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847561467 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847561978 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847562189 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847562491 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847563072 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847565768 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847579731 HBB Health Risk Pathogenic —
RS1847579861 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847582194 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847582308 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847583387 POLR3A Health Risk Pathogenic —
RS184758350 IL17RD Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 18 with anosmia, Delayed puberty
RS1847584312 POLR3A Health Risk Pathogenic —
RS1847584946 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847585652 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS184758570 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1847585812 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847585864 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847586938 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847587051 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847587286 HBB Health Risk Pathogenic beta Thalassemia, BETA-PLUS-THALASSEMIA
RS1847587350 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847587392 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847587799 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847587930 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847588699 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847588915 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847589398 HBB Health Risk Pathogenic/Likely pathogenic beta Thalassemia, Hemoglobinopathy
RS1847591425 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847592245 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847592435 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1847597376 GLE1 Health Risk Pathogenic —
RS1847626648 POLR3A Health Risk Likely pathogenic POLR3A-related disorder, POLR3A-related disorder
RS184764148 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS184767321 CFAP57 Health Risk Conflicting classifications of pathogenicity CFAP57-related disorder, CFAP57-related disorder
RS184769421 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS184769423 SCN2A Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Developmental and epileptic encephalopathy
RS1847695216 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS184770596 DGUOK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Portal hypertension
RS1847710909 GLE1 Health Risk Pathogenic/Likely pathogenic GLE1-related disorder, GLE1-related disorder
RS1847713984 GLE1 Health Risk Pathogenic —
RS1847714893 GLE1 Health Risk Pathogenic —
RS184773311 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1847769670 JMJD1C Health Risk Conflicting classifications of pathogenicity Benign familial infantile epilepsy, Early myoclonic encephalopathy
RS1847775573 GLE1 Health Risk Likely pathogenic Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
RS1847831145 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
RS1847847959 GLE1 Health Risk Likely pathogenic —
RS1847857299 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1847863441 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS1847871015 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1847871996 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1847878243 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1847910379 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1847910654 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS1847921260 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1847921335 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1847921591 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS1847921909 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1847923379 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1847925080 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1847925196 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS1847929817 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1847932355 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1847934777 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1847935299 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1847939431 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1847940504 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1847944661 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS1847944988 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1847952281 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1847952502 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1847955378 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1847955457 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS1848014133 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1848015403 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1848019149 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1848019699 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1848023281 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1848042860 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1848043657 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1848052674 SETX Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS1848060631 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1848060729 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1848061158 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS1848061944 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1848063769 SMPD1 Health Risk Pathogenic —
RS1848064627 SHOC2 Health Risk Pathogenic Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1
RS1848064978 SMPD1 Health Risk Likely pathogenic Sphingomyelin/cholesterol lipidosis, Sphingomyelin/cholesterol lipidosis
RS184807155 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS184807941 SELENON Health Risk Conflicting classifications of pathogenicity SEPN1-related disorder, SEPN1-related disorder
RS1848079553 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1848086376 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1848086912 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS1848088118 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS1848097390 COL27A1 Health Risk Likely pathogenic Steel syndrome, Steel syndrome
RS1848099174 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1848099900 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1848103102 JMJD1C Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS184812195 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
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