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
RS201106245 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS201106333 CELSR3 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
RS201106427 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS201106576 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS201106988 BACH2 Health Risk Conflicting classifications of pathogenicity —
RS201107091 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer
RS201107225 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS201107513 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS201107889 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS201107982 TMIE Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 6, TMIE-related disorder
RS201108539 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS201108965 TMEM216 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 2, Meckel syndrome
RS201109134 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS201109343 SLC34A3 Health Risk Conflicting classifications of pathogenicity SLC34A3-related disorder, Autosomal recessive hypophosphatemic bone disease
RS201109748 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS201109959 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS201110163 DSPP Health Risk Conflicting classifications of pathogenicity —
RS201110935 FPR1 Health Risk Conflicting classifications of pathogenicity Gingival disorder, Gingival disorder
RS201111173 HSD3B7 Health Risk Conflicting classifications of pathogenicity —
RS201111272 CTU2 Health Risk Conflicting classifications of pathogenicity Differences in sex development, Differences in sex development
RS201111299 CPAP Health Risk Pathogenic Perisylvian polymicrogyria, Primary microcephaly
RS201111397 TMPRSS5 Health Risk Conflicting classifications of pathogenicity —
RS201111610 NEB Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Peripheral neuropathy
RS201112096 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS201112407 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS201113097 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder
RS201113098 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS201113602 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS201113762 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS201113814 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS201113909 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SIN3A-related disorder
RS201113967 ATG2B Health Risk Conflicting classifications of pathogenicity —
RS201114196 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS201114390 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS201114442 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS201114595 ABCD1 Health Risk Pathogenic Nonpapillary renal cell carcinoma, Adrenoleukodystrophy
RS201114717 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, See cases
RS201115064 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS201115244 MCM8 Health Risk Pathogenic Premature ovarian failure 10, Premature ovarian failure 10
RS201115371 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism
RS201115573 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS201115695 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS201115726 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS201115952 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS201115971 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS201116482 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS201116549 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS201116557 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity
RS201117145 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS201117318 TRIOBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201117452 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS201117517 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Tooth agenesis
RS201117797 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS201117839 ELANE Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Cyclical neutropenia
RS201118034 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS201118044 PRKAA1 Health Risk Conflicting classifications of pathogenicity —
RS201118080 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Inborn genetic diseases
RS201118107 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS201118225 BMP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201118246 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS201118331 FLI1 Health Risk Conflicting classifications of pathogenicity Bleeding disorder, platelet-type
RS201118703 DNHD1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS201118857 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS201118975 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS201118996 GALNT14 Health Risk Pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS201119351 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS201119402 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201119959 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases
RS201120508 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAI1-related disorder
RS201120788 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201120810 CACNA1B Health Risk Conflicting classifications of pathogenicity CACNA1B-related disorder, CACNA1B-related disorder
RS201120871 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201121020 ZNF106 Health Risk Conflicting classifications of pathogenicity —
RS201121030 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS201121122 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Ovarian serous cystadenocarcinoma
RS201121146 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS201121404 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201121892 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 54
RS201121917 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS201122237 IARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201122410 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS201122718 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS201123101 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS201123321 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Inborn genetic diseases
RS201123438 COL4A5 Health Risk Conflicting classifications of pathogenicity COL4A5-related disorder, COL4A5-related disorder
RS201123735 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, Inborn genetic diseases
RS201123766 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, SRD5A3-related disorder
RS201123815 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS201123897 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS201123945 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201124054 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS201124068 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS201124247 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS201124357 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS201124957 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS201124975 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201125422 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS201125492 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS201125580 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS201125928 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
« Prev 1 ... 1461 1462 1463 1464 1465 1466 1467 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →