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
RS1229102944 COL7A1 Health Risk Likely pathogenic —
RS1229128923 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1229139298 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1229142303 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1229143002 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1229145139 SLITRK6 Health Risk Conflicting classifications of pathogenicity —
RS1229169680 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Long QT syndrome 11
RS1229171141 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1229192702 TNFRSF11A Health Risk Pathogenic —
RS1229193421 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, Inborn genetic diseases
RS1229197873 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1229200252 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1229215269 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1229220724 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1229246967 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1229281209 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1229287051 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS1229291913 POMT2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1229308767 ESRRB Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS1229314240 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1229324113 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1229328527 TANC2 Health Risk Pathogenic —
RS1229339759 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1229345000 TG Health Risk Likely pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1229349983 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1229357367 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1229387697 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS1229407025 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1229409884 RNASEH1 Health Risk Likely pathogenic —
RS1229434307 NTRK2 Health Risk Conflicting classifications of pathogenicity Developmental disorder, Developmental disorder
RS1229439041 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS1229450407 ACTN1 Health Risk Likely pathogenic Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS1229452874 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disorder, VWF-related disorder
RS1229458254 SPACA1 Health Risk Pathogenic Spermatogenic failure 85, Spermatogenic failure 85
RS1229469680 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1229474296 NDUFV1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1229477261 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1229489150 VPS13A Health Risk Pathogenic —
RS1229494027 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1229498461 ANKS1B Health Risk Likely pathogenic —
RS1229507395 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS1229517379 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Childhood hypophosphatasia
RS1229548274 BICRA Health Risk Pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS1229556495 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1229561585 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1229564017 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1229568621 COPB2 Health Risk Pathogenic Microcephaly 19, primary
RS1229581230 HARS2 Health Risk Pathogenic Perrault syndrome 2, Perrault syndrome 2
RS1229582901 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1229588861 IMPG2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1229595545 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1229615060 LRP5 Health Risk Likely pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS1229627235 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1229638201 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1229650809 HNF4A Health Risk Likely pathogenic Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Monogenic diabetes
RS1229663143 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS1229666565 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS1229674982 AP3B2 Health Risk Pathogenic —
RS1229690070 TGM1 Health Risk Pathogenic —
RS1229705288 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS1229707459 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1229733932 CBL Health Risk Conflicting classifications of pathogenicity —
RS1229740428 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS1229749476 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1229777829 TMEM151A Health Risk Pathogenic Episodic kinesigenic dyskinesia 3, Episodic kinesigenic dyskinesia 3
RS1229792348 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1229799153 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1229801064 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1229805074 TRIM8 Health Risk Conflicting classifications of pathogenicity —
RS1229811721 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS1229828972 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1229833293 USP53 Health Risk Pathogenic —
RS12298510 ABCC9 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS1229854214 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1229855515 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1229860023 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1229881653 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS1229883838 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1229896671 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1229896690 MAT1A Health Risk Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS12299012 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, Rotor syndrome
RS1229915575 LAMB3 Health Risk Pathogenic —
RS1229922592 VPS13C Health Risk Pathogenic —
RS1229926683 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1229928635 COL2A1 Health Risk Likely pathogenic —
RS1229933151 CHD4 Health Risk Likely pathogenic Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay
RS1229933491 SORL1 Health Risk Pathogenic —
RS1229952265 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1229954426 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1229979805 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1230015326 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1230015941 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1230021596 ELAC2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS1230022655 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1230037871 PIK3R1 Health Risk Pathogenic SHORT syndrome, Immunodeficiency 36 with lymphoproliferation
RS1230056944 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1230074670 STRADA Health Risk Likely pathogenic Polyhydramnios, megalencephaly
RS1230076038 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1230080456 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1230083633 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
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