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
RS1210729449 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1210737543 PTEN Health Risk Conflicting classifications of pathogenicity Cowden syndrome 1, Hereditary cancer-predisposing syndrome
RS1210749655 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1210751666 GZF1 Health Risk Pathogenic Joint laxity, short stature
RS1210762206 PYCR2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS1210764379 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1210775452 CNGA3 Health Risk Likely pathogenic —
RS1210788594 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1210815997 GABRB2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1210846081 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS1210851910 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Spastic paraplegia
RS1210874691 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 4
RS1210887840 CARMIL2 Health Risk Pathogenic —
RS1210912397 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS1210919054 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS1210934866 SCN4A Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS1210940629 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS12109444 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1210953680 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1210956110 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS1210957618 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1210959281 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1210978043 CD46 Health Risk Conflicting classifications of pathogenicity —
RS1210988336 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1210990672 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1210995618 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1210999092 DPAGT1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1211027535 DNA2 Health Risk Conflicting classifications of pathogenicity —
RS1211057639 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1211079280 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Laurence-Moon syndrome
RS1211098698 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS1211112295 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1211122898 GJC2 Health Risk Pathogenic —
RS1211144774 ERCC8 Health Risk Likely pathogenic Cockayne syndrome, Cockayne syndrome
RS1211156516 TMEM67 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1211193705 GLE1 Health Risk Likely pathogenic —
RS1211207020 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1211210077 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS1211225273 EMC10 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures
RS1211232252 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1211242747 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1211248610 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1211262994 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1211288472 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1211322465 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1211325812 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa
RS1211334325 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1211340506 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS1211360114 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1211363704 SLC45A2 Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
RS1211378375 SYNE2 Health Risk Conflicting classifications of pathogenicity SYNE2-related disorder, Emery-Dreifuss muscular dystrophy 5
RS1211389550 CEP104 Health Risk Pathogenic Joubert syndrome 25, Joubert syndrome 25
RS1211397810 LMX1B Health Risk Pathogenic —
RS1211403432 LRSAM1 Health Risk Pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P
RS1211433401 POLR3A Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS1211456697 LFNG Health Risk Pathogenic Spondylocostal dysostosis 3, autosomal recessive
RS1211492911 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1211492964 PDZD7 Health Risk Pathogenic —
RS1211499888 RPGRIP1L Health Risk Likely pathogenic Meckel syndrome, type 5
RS1211534165 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1211539675 PHYH Health Risk Pathogenic/Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS1211553665 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS1211561143 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1211579979 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1211592084 PPIB Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
RS1211592806 TMEM216 Health Risk Likely pathogenic Meckel syndrome, type 2
RS1211601030 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1211616091 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1211627330 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1211629219 OTOA Health Risk Pathogenic —
RS1211642532 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Colon adenocarcinoma
RS1211645093 CD40 Health Risk Pathogenic —
RS1211665230 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1211675075 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS1211684571 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1211734208 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1211739234 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS1211739649 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1211773372 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS12117747 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS12118058 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease
RS1211845337 CNGA3 Health Risk Pathogenic/Likely pathogenic —
RS1211852182 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1211856182 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1211863124 STXBP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 4
RS1211875269 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1211886658 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS1211886873 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1211890738 COL7A1 Health Risk Pathogenic Pretibial dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS1211905522 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1211920866 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1211957325 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1211983012 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS1212006965 DLG3 Health Risk Likely pathogenic —
RS1212010105 EYS Health Risk Pathogenic —
RS1212026437 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1212059076 AFF2 Health Risk Likely pathogenic FRAXE, FRAXE
RS1212081578 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1212090722 COL4A4 Health Risk Likely pathogenic —
RS1212136611 GREB1L Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
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