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
RS201184315 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201184519 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS201184634 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS201184637 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS201184915 WHRN Health Risk Conflicting classifications of pathogenicity —
RS201185279 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS201185475 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS201185479 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS201185673 PDLIM3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS201185829 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS201185969 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinal dystrophy
RS201186180 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 45
RS201186199 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS201186216 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS201186440 CERKL Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS201186470 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS201186702 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS2011867276 ASXL1 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS201186767 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201186884 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS201186956 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201187429 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS201187598 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS201187879 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201187909 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS201187955 KMT2E Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201188174 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS201188361 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Jeune thoracic dystrophy
RS201188381 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201188543 MED13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201188632 CEACAM16 Health Risk Conflicting classifications of pathogenicity —
RS201188869 DUOX2 Health Risk Likely pathogenic —
RS201188972 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS201189533 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS201189784 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201190064 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2011901554 ASXL1 Health Risk Likely pathogenic Rubinstein Taybi like syndrome, Rubinstein Taybi like syndrome
RS201190236 HTRA1 Health Risk Conflicting classifications of pathogenicity Macular degeneration, Macular degeneration
RS201190252 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS201190266 RASA2 Health Risk Conflicting classifications of pathogenicity RASA2-related disorder, RASA2-related disorder
RS201190539 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS201191038 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Ovarian serous cystadenocarcinoma
RS201191082 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201191369 TENM4 Health Risk Conflicting classifications of pathogenicity —
RS201191389 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS201191394 REPS1 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 7, Neurodegeneration with brain iron accumulation
RS201191528 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS201191571 HIVEP2 Health Risk Conflicting classifications of pathogenicity HIVEP2-related disorder, HIVEP2-related disorder
RS201192584 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS201192645 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201192656 RIMS2 Health Risk Likely pathogenic Cone-rod synaptic disorder, congenital nonprogressive
RS201192875 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS201192904 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS201192909 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS201193012 TG Health Risk Pathogenic —
RS201193135 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS201193151 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS201193346 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiomyopathy
RS201193356 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201193446 CCDC88C Health Risk Conflicting classifications of pathogenicity —
RS2011936914 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201194631 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS201194692 LMBR1 Health Risk Conflicting classifications of pathogenicity Polydactyly of a triphalangeal thumb, Polydactyly of a triphalangeal thumb
RS201194808 AGBL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201194863 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9-related disorder
RS201195157 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS201195175 TACR3 Health Risk Likely pathogenic Delayed puberty, Delayed puberty
RS201195196 SHROOM2 Health Risk Conflicting classifications of pathogenicity —
RS201195495 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Inborn genetic diseases
RS201195539 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS201195769 CA5A Health Risk Conflicting classifications of pathogenicity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS201195801 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS201196326 ETV6 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 5, Inborn genetic diseases
RS201196622 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS201196696 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, 7 conditions
RS201196733 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS201196911 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201197278 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS201197807 DOCK11 Health Risk Conflicting classifications of pathogenicity —
RS201197899 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS201198223 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS201198284 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant Alport syndrome
RS201198815 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS201198839 WDR19 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 4, Asphyxiating thoracic dystrophy 5
RS201199086 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS201199166 PDHB Health Risk Likely pathogenic Lung cancer, Familial cancer of breast
RS201199381 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS201199629 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201200122 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Tip-toe gait
RS201200400 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS201200430 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS201200863 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS201200968 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS201201194 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS201201443 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, AGL-related disorder
RS201201471 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS201201519 KY Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KY-related disorder
RS201201843 PLEKHG2 Health Risk Conflicting classifications of pathogenicity Leukodystrophy and acquired microcephaly with or without dystonia, PLEKHG2-related disorder
RS201202020 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS201202488 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
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