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
RS368211058 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS368211314 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Van Maldergem syndrome 1
RS368212208 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS368212282 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Intellectual disability
RS368213837 ATCAY Health Risk Conflicting classifications of pathogenicity Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
RS368213921 PROM1 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy
RS368214163 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS368215361 ATP2B3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS368216093 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS368216570 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS368217121 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS368217486 MATR3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 21, Inborn genetic diseases
RS368217569 RCBTB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, RCBTB1-related retinopathy
RS368219776 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS368221089 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS368221664 RNF213 Health Risk Conflicting classifications of pathogenicity RNF213-related disorder, RNF213-related disorder
RS368221789 GAMT Health Risk Likely pathogenic Inborn genetic diseases, Cerebral creatine deficiency syndrome
RS368221866 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS368221981 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS368222375 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS368222729 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS368222811 ACAD9 Health Risk Conflicting classifications of pathogenicity —
RS368223523 PRPF8 Health Risk Pathogenic —
RS368224056 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS368225080 SNRNP200 Health Risk Conflicting classifications of pathogenicity SNRNP200-related disorder, SNRNP200-related disorder
RS368225510 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata
RS368225671 F10 Health Risk Conflicting classifications of pathogenicity Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS368227090 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS368227259 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa pruriginosa, Epidermolysis bullosa pruriginosa
RS368227332 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS368228246 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368228939 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS368229473 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS368230090 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS368231049 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS368232448 KCNC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 13
RS368232950 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS368233273 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368233437 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS368233775 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS368234110 ATP2A1 Health Risk Pathogenic/Likely pathogenic Brody myopathy, Brody myopathy
RS368235882 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS368236133 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS368239109 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS368239745 POU4F3 Health Risk Conflicting classifications of pathogenicity —
RS368239890 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS368239982 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS368240939 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS368240967 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS368241091 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS368241269 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS368242197 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS368243641 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS368244038 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS368244224 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS368244226 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS368244738 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS368246776 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS368248078 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Alport syndrome
RS368248592 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, See cases
RS368249273 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Ovarian serous cystadenocarcinoma
RS368249392 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368250605 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS368250686 SAMD11 Health Risk Conflicting classifications of pathogenicity —
RS368251332 DOLK Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, DK1-congenital disorder of glycosylation
RS368252010 RBBP8 Health Risk Conflicting classifications of pathogenicity —
RS368253777 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS368253820 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS368255182 WDR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368256039 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, SCN4A-related disorder
RS368256121 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS368257155 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS368257475 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS368258557 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ANK3-related disorder
RS368259149 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS368259931 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS368260932 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS368260972 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS368261417 OTOG Health Risk Conflicting classifications of pathogenicity —
RS368262294 DOCK6 Health Risk Likely pathogenic Sarcoma, Sarcoma
RS368263333 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS368263380 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS368263400 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368263958 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS368264266 GATAD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368264870 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS368265962 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS368266167 OTOGL Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS368266194 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS368266633 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Ovarian cancer
RS368266910 DDX11 Health Risk Likely pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS368267301 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS368268112 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS368268273 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS368269193 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS368269464 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS368270588 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS368270856 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS368270996 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS368271628 JUP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Naxos disease
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