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
RS1475060729 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1475065783 RARS2 Health Risk Pathogenic —
RS147506864 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 56
RS147506904 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS147506929 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1475078130 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1475081112 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS147508177 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS147508369 RPS19 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 1
RS147509797 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS147510106 HSD3B7 Health Risk Conflicting classifications of pathogenicity HSD3B7-related disorder, Congenital bile acid synthesis defect 1
RS147510280 ABL1 Health Risk Conflicting classifications of pathogenicity —
RS147510760 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1475116674 ALK Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Neuroblastoma
RS1475129324 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1475139450 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1475148938 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS1475149579 RYR1 Health Risk Pathogenic Congenital myopathy with fiber type disproportion, Congenital myopathy with fiber type disproportion
RS1475150514 CCDC88C Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS147515380 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1475155503 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS147516123 LIAS Health Risk Conflicting classifications of pathogenicity Lipoic acid synthetase deficiency, Inborn genetic diseases
RS147516124 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1475161693 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS147516957 CLCC1 Health Risk Conflicting classifications of pathogenicity —
RS147517201 SACS Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS147517227 SLC12A3 Health Risk Conflicting classifications of pathogenicity —
RS147517396 MYOD1 Health Risk Pathogenic Myopathy, congenital
RS1475176373 KCNJ13 Health Risk Pathogenic Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS147519994 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1475200635 TCTN1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1475201975 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1475205147 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1475208851 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147521473 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS147521699 NUP188 Health Risk Conflicting classifications of pathogenicity Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
RS1475224037 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS147522485 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS147522594 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS147523071 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS147523309 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS147523833 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1475247315 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS147524933 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS147525157 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS1475256332 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1475257145 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1475259063 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS147526389 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1475264827 HJV Health Risk Pathogenic —
RS147527383 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
RS1475279630 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS1475281622 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS147528200 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1475285462 POLR1C Health Risk Pathogenic —
RS147528707 APOA5 Health Risk Conflicting classifications of pathogenicity APOA5-related disorder, APOA5-related disorder
RS147528917 FBLN1 Health Risk Conflicting classifications of pathogenicity —
RS147529965 MAN1B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rafiq syndrome
RS147530139 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS147531541 ACADSB Health Risk Conflicting classifications of pathogenicity Deficiency of 2-methylbutyryl-CoA dehydrogenase, ACADSB-related disorder
RS147531607 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1475317357 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS147531758 ARHGEF10 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Autosomal dominant slowed nerve conduction velocity
RS147531897 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1475321521 NUP160 Health Risk Pathogenic —
RS1475322504 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Ocular cystinosis
RS147532349 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS147532578 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS147532612 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS147533056 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS147533489 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1475338876 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS147534008 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS147534616 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1475358670 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS147535955 CYP1B1 Health Risk Likely pathogenic Primary congenital glaucoma, Primary congenital glaucoma
RS147536061 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1475369039 DDHD2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS147537071 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1475372376 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS147538201 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS147538370 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS147538692 PREX2 Health Risk Conflicting classifications of pathogenicity PREX2-related disorder, PREX2-related disorder
RS147538847 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, TP63-related disorder
RS1475396127 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS147540030 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder
RS147540466 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS147540469 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS147540920 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1475410456 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS147541452 CASQ1 Health Risk Conflicting classifications of pathogenicity Myopathy due to calsequestrin and SERCA1 protein overload, Inborn genetic diseases
RS147542012 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147542198 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS147542208 MLH1 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS147542645 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Meniere disease
RS147542801 BMP2 Health Risk Conflicting classifications of pathogenicity —
RS1475433563 UNC80 Health Risk Pathogenic —
RS1475440343 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS147544279 KATNIP Health Risk Conflicting classifications of pathogenicity —
RS1475447884 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
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