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
RS1165702486 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1165714406 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1165716443 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS116572520 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1165725533 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1165727019 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SETD5-related disorder
RS1165737526 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1165759330 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1165763082 GCSH Health Risk Pathogenic/Likely pathogenic Multiple mitochondrial dysfunctions syndrome 7, Multiple mitochondrial dysfunctions syndrome 7
RS1165784045 MME Health Risk Pathogenic —
RS1165786308 PIEZO1 Health Risk Likely pathogenic —
RS1165786597 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1165815510 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS11658164 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1165819867 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS116585466 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS116585673 KCNH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1165860389 NUP107 Health Risk Likely pathogenic Galloway-Mowat syndrome 7, Galloway-Mowat syndrome 7
RS116586548 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS1165866210 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1165867512 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy
RS1165871561 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS116587608 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS11658785 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1165909730 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS116591583 LONP1 Health Risk Conflicting classifications of pathogenicity LONP1-related disorder, LONP1-related disorder
RS1165923760 TRPC6 Health Risk Likely pathogenic —
RS1165937383 GJB2 Health Risk Pathogenic —
RS1165952837 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1165956033 HSD17B3 Health Risk Pathogenic —
RS1165958512 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS1165961011 RP1 Health Risk Pathogenic —
RS116596107 ARFGEF3 Health Risk Conflicting classifications of pathogenicity ARFGEF3-related disorder, Thyroid cancer
RS1165986811 TET2 Health Risk Pathogenic —
RS1165990855 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1166000241 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS116601609 MYO18B Health Risk Conflicting classifications of pathogenicity Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS1166021430 PIEZO1 Health Risk Likely pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS1166022838 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1166031576 HPGD Health Risk Pathogenic —
RS116603414 COL14A1 Health Risk Conflicting classifications of pathogenicity —
RS1166042912 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1166051735 TG Health Risk Likely pathogenic TG-related disorder, TG-related disorder
RS1166058965 DNAH9 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS116606479 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS116606949 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS116608867 RNF213 Health Risk Conflicting classifications of pathogenicity RNF213-related disorder, RNF213-related disorder
RS116608946 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1166096502 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1166097710 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1166109240 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1166127455 DDOST Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
RS1166132682 TIMM50 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 9, 3-methylglutaconic aciduria type 9
RS1166138315 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Inborn genetic diseases
RS1166138838 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1166139497 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1166140426 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS1166147565 HOXD13 Health Risk Pathogenic —
RS1166150272 TCN2 Health Risk Likely pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS1166156488 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS116616112 TLL1 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 6, TLL1-related disorder
RS1166164399 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS116616468 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS116617171 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1166181741 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1166189035 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS116620395 MTHFR Health Risk Pathogenic/Likely pathogenic Neural tube defects, folate-sensitive
RS116621105 SLC12A2 Health Risk Pathogenic Delpire-McNeill syndrome, Delpire-McNeill syndrome
RS116621885 TIA1 Health Risk Conflicting classifications of pathogenicity Welander distal myopathy, TIA1-related disorder
RS116621934 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS1166221355 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiomyopathy
RS1166225684 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1166243253 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1166245419 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1166261279 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1166271142 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1166276004 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1166280962 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS1166286386 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1166294561 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS116630187 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Connective tissue disorder
RS1166302175 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1166311240 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1166321526 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1166323407 CEP57 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 1
RS1166325650 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, Thyroid cancer
RS1166330097 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS116634494 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1166347946 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1166352281 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS1166357291 ABCA4 Health Risk Likely pathogenic Stargardt disease, ABCA4-related disorder
RS1166381063 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1166383301 SPTBN2 Health Risk Pathogenic —
RS116640707 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS1166422359 ADGRV1 Health Risk Likely pathogenic —
RS1166449446 ADAMTSL2 Health Risk Likely pathogenic Geleophysic dysplasia 1, Lethal short-limb skeletal dysplasia
RS1166459319 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1166463469 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1166469802 PIEZO1 Health Risk Pathogenic —
RS116647440 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
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