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
RS1015206890 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS1015272346 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, Inborn genetic diseases
RS1015282988 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1015313190 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1015321377 APTX Health Risk Pathogenic/Likely pathogenic Ataxia, early-onset
RS1015322780 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, Inborn genetic diseases
RS1015359196 VAC14 Health Risk Likely pathogenic Striatonigral degeneration, childhood-onset
RS1015399427 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1015435132 LTBP4 Health Risk Conflicting classifications of pathogenicity —
RS1015446414 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1015483969 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1015484639 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1015495067 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS1015506783 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1015506821 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Inborn genetic diseases
RS1015531394 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1015531524 POGLUT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1
RS1015551647 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1015578994 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, ALPL-related disorder
RS1015594025 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1015604630 RAPSN Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS1015613805 LRPPRC Health Risk Conflicting classifications of pathogenicity —
RS1015629239 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1015686016 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1015686770 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome
RS1015730449 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1015790945 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1015798796 SLC2A10 Health Risk Pathogenic/Likely pathogenic Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1015832236 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1015850611 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1015857165 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS1015881666 ICOS Health Risk Pathogenic Immunodeficiency, common variable
RS1015886974 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1015887716 SETD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1015895028 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS1015942660 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS1015949817 SLC39A14 Health Risk Pathogenic Hypermanganesemia with dystonia 2, Hypermanganesemia with dystonia 2
RS1015952309 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1016031661 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1016100479 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1016116935 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1016142312 TNFRSF13B Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS1016165797 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1016219246 CTNND2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Inborn genetic diseases
RS1016233369 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1016240480 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1016253580 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1016320330 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome
RS1016336000 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1016364893 GEMIN5 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS1016368660 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1016382250 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1016438634 C9 Health Risk Pathogenic —
RS1016467909 TSEN54 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A
RS1016473135 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1016477183 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS1016587396 PCNT Health Risk Pathogenic —
RS1016594361 ARSG Health Risk Pathogenic —
RS1016613332 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1016685208 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1016685696 ADGRV1 Health Risk Pathogenic —
RS1016687510 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1016696059 ADGRG2 Health Risk Pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1016718367 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS10167431 IL1RL2 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS1016767319 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS1016861963 GLDN Health Risk Likely pathogenic Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS1016959427 TCF4 Health Risk Conflicting classifications of pathogenicity Oculomotor apraxia, Pitt-Hopkins syndrome
RS1016968797 TMPRSS3 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS1016969600 SMC3 Health Risk Likely pathogenic —
RS1016996167 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS1016999544 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS1017003712 HSD17B3 Health Risk Pathogenic —
RS1017046170 RBCK1 Health Risk Likely pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS1017054461 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1017069383 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS1017077909 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1017086086 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1017086601 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1017141110 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1017147686 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS1017161806 CELSR1 Health Risk Conflicting classifications of pathogenicity CELSR1-associated congenital heartdefects, CELSR1-associated congenital heartdefects
RS1017181748 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1017182331 ZAP70 Health Risk Conflicting classifications of pathogenicity —
RS1017195499 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Inborn genetic diseases
RS10172023 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1017330396 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS1017444476 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1017448105 RGS9 Health Risk Pathogenic —
RS1017496924 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS1017506584 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1017536954 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS1017569758 RBCK1 Health Risk Pathogenic Inborn genetic diseases, Polyglucosan body myopathy type 1
RS1017583398 DDX3X Health Risk Likely pathogenic —
RS1017592342 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1017611176 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS1017700992 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1017715903 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1017737800 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS1017750255 NPHP1 Health Risk Pathogenic Nephronophthisis, Joubert syndrome and related disorders
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