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
RS141169671 IMPG1 Health Risk Conflicting classifications of pathogenicity —
RS141169746 PCDH15 Health Risk Conflicting classifications of pathogenicity PCDH15-related disorder, PCDH15-related disorder
RS141169758 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1411700632 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS141170182 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1411703397 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS141170955 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1411711162 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS1411719761 SIL1 Health Risk Pathogenic —
RS141172610 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS141173028 SPTB Health Risk Conflicting classifications of pathogenicity —
RS141173656 CDHR1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1411737210 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1411740455 ERCC2 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
RS141174358 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS141174380 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1411748309 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Inborn genetic diseases
RS141175037 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1411750377 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS141175202 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1411756701 PEX3 Health Risk Likely pathogenic Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS141176252 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS141176276 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141176394 PITX2 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, PITX2-Related Eye Abnormalities
RS1411766225 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS141177165 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS141177255 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS141177664 SEMA4A Health Risk Conflicting classifications of pathogenicity —
RS141177727 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1411780867 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS141178702 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS141178720 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS141178932 LARP7 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism, Alazami type
RS141178995 LRP5 Health Risk Likely pathogenic Polycystic liver disease 1, Polycystic liver disease 4 with or without kidney cysts
RS141179774 CRADD Health Risk Pathogenic Intellectual disability, autosomal recessive 34
RS141180808 SELENOO Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Clear cell carcinoma of kidney
RS141181035 PDZD7 Health Risk Conflicting classifications of pathogenicity —
RS1411819028 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1411820884 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS141183007 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS141183965 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Inborn genetic diseases
RS141184151 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS141184241 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS141184379 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, CARS2-related disorder
RS141184479 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS141184565 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS141185224 RET Health Risk Conflicting classifications of pathogenicity Aganglionic megacolon, Multiple endocrine neoplasia type 2B
RS141185480 RHO Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa
RS1411864734 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1411870484 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS141187412 NDUFS3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1411877055 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS1411880763 PAX6 Health Risk Pathogenic/Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS141188608 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS1411887961 EMX2 Health Risk Pathogenic Schizencephaly, Schizencephaly
RS1411888500 HMMR Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS1411890432 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141189136 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Microcephaly
RS141190104 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS1411907961 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS141190803 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS141190850 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8
RS141191319 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS141191327 KDM5B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 65
RS141191480 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS141191660 KCTD7 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy type 3, KCTD7-related disorder
RS141191791 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Inborn genetic diseases
RS141193672 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS141193981 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Type 2 diabetes mellitus
RS1411944871 PLOD1 Health Risk Likely pathogenic —
RS1411949325 MADD Health Risk Pathogenic —
RS1411950710 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS141195210 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS141195315 CFAP410 Health Risk Conflicting classifications of pathogenicity CFAP410-related disorder, CFAP410-related disorder
RS141195622 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS141196027 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS141196660 PTK2 Health Risk Conflicting classifications of pathogenicity —
RS141197241 ASPH Health Risk Conflicting classifications of pathogenicity ASPH-related disorder, Inborn genetic diseases
RS1411985137 FSHR Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS141198920 RUBCN Health Risk Conflicting classifications of pathogenicity —
RS141199483 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS141199649 PSAP Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Krabbe disease due to saposin A deficiency
RS1411999109 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Inborn genetic diseases
RS141200092 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS141200145 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, ETFA-related disorder
RS141201084 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS141202420 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS141202424 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, CIITA-related disorder
RS141202530 SYNE4 Health Risk Conflicting classifications of pathogenicity SYNE4-related disorder, Familial cancer of breast
RS1412025509 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1412045164 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1412045635 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1412048304 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS141204958 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia, Hypokalemic periodic paralysis
RS141204959 NID1 Health Risk Conflicting classifications of pathogenicity —
RS141205509 TREX2 Health Risk Conflicting classifications of pathogenicity —
RS141206016 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1412068236 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Xeroderma pigmentosum
RS141207048 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS141207203 PRPF4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 70, Retinitis pigmentosa 70
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