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
RS150412128 ABCA7 Health Risk Conflicting classifications of pathogenicity —
RS150412204 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS150412512 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150412614 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 8
RS150413396 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS150413453 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS150413930 KRT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150414675 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS150415034 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS150415429 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, CEP83-related disorder
RS150417924 XYLT2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS150418024 MFSD8 Health Risk Conflicting classifications of pathogenicity Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7
RS150418267 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS150419186 LZTR1 Health Risk Pathogenic Noonan syndrome 2, Noonan syndrome 10
RS150419414 ABCA7 Health Risk Conflicting classifications of pathogenicity —
RS150420496 TALDO1 Health Risk Conflicting classifications of pathogenicity Deficiency of transaldolase, Deficiency of transaldolase
RS150420625 MAPT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Frontotemporal dementia
RS150421256 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS150421653 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS150422099 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS150422458 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS150423237 EGFR Health Risk Conflicting classifications of pathogenicity Hereditary cancer, EGFR-related lung cancer
RS150423523 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Spastic paraplegia
RS150424747 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS150425166 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS150425919 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS150425973 PHF21A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150426222 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, OTOGL-related disorder
RS150426464 BSND Health Risk Conflicting classifications of pathogenicity —
RS150427439 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS150427746 GIT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150427791 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS150427959 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS150428018 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS150428096 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS150428209 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS150428394 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS150428844 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150429110 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS150429680 LARS1 Health Risk Conflicting classifications of pathogenicity Infantile liver failure syndrome 1, LARS1-related disorder
RS150429980 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS150430170 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS150430592 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS150430628 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS150430813 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS150431015 CREB3L3 Health Risk Conflicting classifications of pathogenicity —
RS150431153 NLRP2 Health Risk Conflicting classifications of pathogenicity —
RS150431198 TRIO Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 63
RS150431800 EMC1 Health Risk Likely pathogenic —
RS150431950 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS150432787 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS150433001 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, GYS2-related disorder
RS150433582 TOGARAM1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 37
RS150434290 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS150435015 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS150435442 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS150436577 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS150436630 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS150437149 UROC1 Health Risk Conflicting classifications of pathogenicity —
RS150437645 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS150437839 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS150438028 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defect and immunodeficiency syndrome
RS150438471 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS150439088 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS150439110 SLMAP Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS150439937 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS150440242 SLC7A14 Health Risk Conflicting classifications of pathogenicity —
RS150440246 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS150440292 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150440298 CCDC141 Health Risk Conflicting classifications of pathogenicity —
RS150440590 RAB23 Health Risk Conflicting classifications of pathogenicity Carpenter syndrome, RAB23-related disorder
RS150441169 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, GJA8-related disorder
RS150441842 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS150441866 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS150442510 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thymoma
RS150444311 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS150444745 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS150444975 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS150445530 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150445941 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS150446005 SLC4A11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150446804 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS150447764 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS150448918 MC4R Health Risk Conflicting classifications of pathogenicity Obesity, MC4R-related disorder
RS150450383 PRUNE1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS150451861 DNMT3A Health Risk Conflicting classifications of pathogenicity DNMT3A-related disorder, DNMT3A-related disorder
RS150452037 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS150452237 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Severe global developmental delay
RS150452778 OTOF Health Risk Conflicting classifications of pathogenicity OTOF-related disorder, OTOF-related disorder
RS150454036 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS150454815 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS150454912 KCNE1 Health Risk Conflicting classifications of pathogenicity KCNE1-related disorder, Long QT syndrome 5
RS150454971 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
RS150455534 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Inborn genetic diseases
RS150455776 TBC1D7 Health Risk Conflicting classifications of pathogenicity —
RS150457229 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS150457965 IL17RD Health Risk Conflicting classifications of pathogenicity —
RS150458884 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 5, Cardiovascular phenotype
RS150461450 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS150461713 SH3BP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fibrous dysplasia of jaw
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