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
RS775589156 TSC1 Health Risk Likely pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS775589244 TTN Health Risk Conflicting classifications of pathogenicity —
RS7755898 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS775590206 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS775590365 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS775590544 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS775590764 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS775591219 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS775591571 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS775591945 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775592405 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS775593146 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder
RS775594340 FKBP14 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS775594375 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS775595174 STK11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS775595412 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS775598568 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Cervical cancer
RS775599403 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Hereditary hyperekplexia
RS775600052 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS775601813 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS775603840 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases
RS775604156 TTN Health Risk Conflicting classifications of pathogenicity —
RS775604492 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS775605330 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS775606471 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS775607009 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS775607037 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS775608477 TFG Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy, Okinawa type
RS775608608 HNF1A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS775608689 BMPR1B Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 3, Type A2 brachydactyly
RS775608955 PDE4D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775609064 MPZL2 Health Risk Likely pathogenic MPZL2-related disorder, MPZL2-related disorder
RS775610559 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS775612117 AMPD2 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Hereditary spastic paraplegia 63
RS775612958 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Nephronophthisis
RS775613951 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS775613961 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, Kindler syndrome
RS775614028 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS775614771 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS775615484 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS775615603 CDK13 Health Risk Conflicting classifications of pathogenicity —
RS775616181 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS775616803 ACO2 Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Optic atrophy 9
RS775618173 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775618210 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS775618965 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS775621284 ADAMTSL2 Health Risk Pathogenic Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS775621333 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS775621526 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS775622226 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS77562287 MYO3A Health Risk Conflicting classifications of pathogenicity MYO3A-related disorder, MYO3A-related disorder
RS775623164 MTO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS775623397 TBC1D8B Health Risk Likely pathogenic Nephrotic syndrome, type 20
RS775625082 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS775625232 LMX1B Health Risk Conflicting classifications of pathogenicity —
RS775625613 CFAP58 Health Risk Pathogenic Spermatogenic failure 49, Spermatogenic failure 49
RS775625778 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS77562614 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS775626323 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta type 8
RS775628123 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS775628795 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS775629081 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS775630677 VCAN Health Risk Conflicting classifications of pathogenicity VCAN-related disorder, Inborn genetic diseases
RS775630982 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS775631800 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS775633137 PDE1C Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal dominant 74
RS775633155 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS775633710 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS775634013 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS775634580 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS775634835 EIF2B3 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, EIF2B3-related disorder
RS775636888 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS77563738 ADA2 Health Risk Pathogenic/Likely pathogenic Deficiency of adenosine deaminase 2, Inherited Immunodeficiency Diseases
RS775637637 CLCNKB Health Risk Pathogenic Bartter disease type 3, Bartter disease type 4B
RS775637851 USH2A Health Risk Pathogenic —
RS775638328 CUBN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775638588 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS775639244 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, TSC2-related disorder
RS775639416 CFAP52 Health Risk Likely pathogenic Heterotaxy, visceral
RS775639714 SALL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Townes syndrome
RS775640880 MCPH1 Health Risk Pathogenic —
RS775641112 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS775642244 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS775642346 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS775643756 SERPINA11 Health Risk Likely pathogenic Pericardial effusion, Pleural effusion
RS775644641 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775644738 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS775644968 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS775644973 RSPO4 Health Risk Pathogenic Inborn genetic diseases, Nonsyndromic congenital nail disorder 4
RS775646159 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS775648499 RARS2 Health Risk Pathogenic —
RS775650144 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS775650170 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS77565048 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS775651203 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS775651794 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS775651976 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS775652214 QARS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS775653766 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS775654130 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
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