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
RS1855587043 TPP1 Health Risk Pathogenic —
RS1855589148 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1855593862 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1855595805 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1855599044 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1855599946 TPP1 Health Risk Pathogenic —
RS1855627953 TPP1 Health Risk Likely pathogenic —
RS1855631590 TPP1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 7, Autosomal recessive spinocerebellar ataxia 7
RS1855645373 TCIRG1 Health Risk Pathogenic —
RS1855655612 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1855660497 TCIRG1 Health Risk Pathogenic —
RS1855668626 TCIRG1 Health Risk Pathogenic —
RS1855697254 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS185570125 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS185571437 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, HPS6-related disorder
RS185572642 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1855732540 TCIRG1 Health Risk Pathogenic —
RS1855739332 PDE2A Health Risk Pathogenic Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
RS185574478 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1855750271 TCIRG1 Health Risk Pathogenic —
RS1855757730 DCHS1 Health Risk Likely pathogenic —
RS1855762744 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS185576553 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS1855769135 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS185578147 GREB1L Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 3, Mayer-Rokitansky-Kuster-Hauser syndrome
RS1855785074 TNNT3 Health Risk Pathogenic Arthrogryposis, distal
RS1855812873 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS1855823129 SOX6 Health Risk Pathogenic Tolchin-Le Caignec syndrome, Craniosynostosis syndrome
RS1855844502 NDRG1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS185586839 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS185587002 CDK10 Health Risk Pathogenic/Likely pathogenic Al Kaissi syndrome, Al Kaissi syndrome
RS1855880808 PDE2A Health Risk Pathogenic Intellectual developmental disorder with paroxysmal dyskinesia or seizures, Intellectual developmental disorder with paroxysmal dyskinesia or seizures
RS185588836 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS185589110 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS185589320 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS185590768 SLC20A2 Health Risk Conflicting classifications of pathogenicity Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1855918305 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS185592690 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS1855932012 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1855932058 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1855937296 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS185594460 CRPPA Health Risk Conflicting classifications of pathogenicity Congenital Muscular Dystrophy, alpha-dystroglycan related
RS1855957969 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1855979917 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1856007963 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1856010064 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1856010874 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1856011738 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1856011993 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1856035426 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1856035514 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1856044450 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS185605880 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS185607297 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, beta Thalassemia
RS185607659 GREB1L Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 3, GREB1L-related disorder
RS185608262 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS1856116625 SPTAN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 5
RS185611706 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS185613200 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, DYNC2H1-related disorder
RS1856132408 FGF3 Health Risk Conflicting classifications of pathogenicity Deafness with labyrinthine aplasia, microtia
RS1856141939 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS185615367 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS185617318 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1856202628 BBS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome
RS185620750 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1856209517 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1856209722 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, BBS1-related disorder
RS1856229182 KMT5B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 51
RS185623099 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS185623598 PXDN Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS1856241294 NDUFAF5 Health Risk Pathogenic —
RS1856289676 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS185628977 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS185631651 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS185632960 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS1856346961 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1856354695 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1856354768 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1856355517 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1856355607 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1856358703 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS185636479 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Retinitis pigmentosa
RS1856377929 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS185641230 PIGV Health Risk Conflicting classifications of pathogenicity —
RS185645510 CAVIN1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Monogenic diabetes
RS1856478505 BBS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1856478896 BBS1 Health Risk Pathogenic —
RS1856483925 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1856484601 RELA Health Risk Pathogenic/Likely pathogenic RELA-related disorder, RELA-related disorder
RS1856488064 NDRG1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1856507751 CLPB Health Risk Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS1856508068 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS185651210 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1856517666 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1856520165 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS185657233 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS185658468 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1856600618 SPTAN1 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS185660700 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS185661462 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
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