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
RS1361332747 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1361356353 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1361370524 B4GALNT1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1361382376 COL11A2 Health Risk Pathogenic —
RS1361393564 IFT81 Health Risk Pathogenic —
RS1361408137 NCSTN Health Risk Likely pathogenic —
RS1361420677 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1361427704 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1361442490 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1361450354 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1361451153 RYR1 Health Risk Pathogenic —
RS1361454479 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1361458223 AARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1361462274 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1361495767 PIGQ Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 77
RS1361496246 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1361499651 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS1361512116 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1361526419 SLC3A1 Health Risk Pathogenic Cystine urolithiasis, Cystinuria
RS1361547443 PGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 42
RS1361564558 ZNF469 Health Risk Likely pathogenic —
RS1361564818 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1361568839 LTBP4 Health Risk Pathogenic —
RS1361624164 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS1361625543 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1361659361 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS1361667907 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1361669364 ZC4H2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1361687182 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 2
RS1361693785 ADAMTSL4 Health Risk Pathogenic —
RS1361710673 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1361715855 WDR62 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1361730422 CREB3L1 Health Risk Pathogenic —
RS1361739260 RPL11 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 7
RS1361739547 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS1361753522 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
RS1361763237 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1361772036 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, FKTN-related disorder
RS1361784389 NPRL3 Health Risk Likely pathogenic Epilepsy, familial focal
RS1361816581 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1361858388 KCNJ13 Health Risk Likely pathogenic Leber congenital amaurosis 16, Retinitis pigmentosa
RS1361885101 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1361897950 CANT1 Health Risk Likely pathogenic Joint dislocation, Short stature
RS1361910224 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1361922924 RASA1 Health Risk Pathogenic —
RS1361922961 C1QB Health Risk Pathogenic C1Q deficiency 2, C1Q deficiency 2
RS1361923069 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1361925574 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1361929051 LIPE Health Risk Likely pathogenic LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy
RS1361931808 CP Health Risk Likely pathogenic CP-related disorder, CP-related disorder
RS1361964123 EXOSC9 Health Risk Likely pathogenic —
RS1361986900 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1361993950 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS1361998528 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1361999742 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1362008756 TBCD Health Risk Likely pathogenic —
RS1362009010 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1362013257 KCNJ16 Health Risk Pathogenic Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
RS1362046514 MPDZ Health Risk Pathogenic —
RS1362058277 SYNE1 Health Risk Pathogenic —
RS1362058696 USH2A Health Risk Pathogenic Usher syndrome, Retinitis pigmentosa 39
RS1362074591 TUBGCP6 Health Risk Likely pathogenic —
RS1362078144 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS1362123883 GALK1 Health Risk Pathogenic/Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS1362124228 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1362154291 COL2A1 Health Risk Pathogenic —
RS1362164894 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1362178149 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1362191804 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1362195093 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1362202777 LIAS Health Risk Likely pathogenic —
RS1362220560 SERPING1 Health Risk Likely pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS1362224320 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1362231306 EPM2A Health Risk Likely pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1362231446 ORC1 Health Risk Likely pathogenic —
RS1362283507 COL7A1 Health Risk Pathogenic —
RS1362305882 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1362306576 CFH Health Risk Conflicting classifications of pathogenicity Factor H deficiency, Chronic kidney disease
RS1362309822 COL7A1 Health Risk Pathogenic/Likely pathogenic Transient bullous dermolysis of the newborn, Recessive dystrophic epidermolysis bullosa
RS1362318397 CNGA3 Health Risk Pathogenic —
RS1362318488 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1362343873 PLOD1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1362347834 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1362360030 COL2A1 Health Risk Pathogenic 15 conditions, Inborn genetic diseases
RS1362360554 GYS1 Health Risk Pathogenic Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS1362374699 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1362409861 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Cardiovascular phenotype
RS1362460137 WT1 Health Risk Conflicting classifications of pathogenicity 8 conditions, Frasier syndrome
RS1362463869 MOCOS Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS1362472371 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1362475419 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1362511475 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1362518517 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1362520746 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS1362524399 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1362530862 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS1362562605 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1362564667 NEK9 Health Risk Likely pathogenic Arthrogryposis, Perthes disease
RS1362570122 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1362575880 PSEN1 Health Risk Likely pathogenic Acne inversa, familial
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