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
RS200325111 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS200325312 COL9A2 Health Risk Conflicting classifications of pathogenicity COL9A2-related disorder, Inborn genetic diseases
RS200325324 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200325397 COL5A2 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Ehlers-Danlos syndrome
RS200326353 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS200326527 LRPPRC Health Risk Pathogenic —
RS200327015 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS200327385 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200327418 GPD1 Health Risk Pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
RS200327514 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS200327756 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS200327783 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS200327969 JUP Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS200327975 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS200328073 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS200328403 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS200328537 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
RS200328630 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS200328638 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Meckel-Gruber syndrome
RS200329184 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH9-related disorder
RS200329273 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS200329755 TOP2B Health Risk Conflicting classifications of pathogenicity —
RS200329773 PLEKHM2 Health Risk Conflicting classifications of pathogenicity —
RS200330181 CHST14 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200330283 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS200330469 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS200330662 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS200330818 GDF2 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS200331042 SIX3 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Holoprosencephaly 2
RS200331553 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS200331961 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS200332172 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS200332492 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Acute myeloid leukemia
RS200332864 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS200332871 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CNGB1-related disorder
RS200333208 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS200333323 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS200333359 CACNA1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS200333632 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS200334019 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS200334114 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS200334298 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hypomyelinating leukodystrophy 2
RS200334446 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS200334886 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200334972 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS200334999 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS200335137 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Thyroid cancer
RS200335307 FLNB Health Risk Pathogenic —
RS200335504 IFT81 Health Risk Pathogenic/Likely pathogenic SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY, Short-rib thoracic dysplasia 19 with or without polydactyly
RS200335720 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200335928 PLEC Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS200336280 CTNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ocular cystinosis
RS200336608 ILK Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS200336897 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS200337358 PPCS Health Risk Conflicting classifications of pathogenicity PPCS-related disorder, PPCS-related disorder
RS200337373 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS200338042 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS200338097 SPRED1 Health Risk Conflicting classifications of pathogenicity —
RS200338297 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS200338374 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200338566 RAX Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 3, Isolated microphthalmia 3
RS200339216 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS200339331 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS200339376 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS200339767 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS200339830 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS200339845 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS200339924 CFHR4 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS200340261 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS200340759 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200340896 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS200340948 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS200341117 CENPF Health Risk Conflicting classifications of pathogenicity —
RS200341138 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS200341414 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS200341945 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS200342284 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy
RS200342335 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS200342474 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS200343026 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS200343365 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Inborn genetic diseases
RS200343420 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS200343758 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS200343823 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS200344135 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Occult macular dystrophy
RS200344246 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200344386 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2
RS200344636 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200344678 ATAD3A Health Risk Conflicting classifications of pathogenicity Harel-Yoon syndrome, Inborn genetic diseases
RS200344686 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 1
RS200345491 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS200346497 FRAS1 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Fraser syndrome 1
RS200346652 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS200346963 ITPR2 Health Risk Conflicting classifications of pathogenicity ITPR2-related disorder, ITPR2-related disorder
RS200346970 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS200347208 HYDIN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200347449 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS200347634 APC2 Health Risk Conflicting classifications of pathogenicity APC2-related disorder, APC2-related disorder
RS200347699 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, AP4M1-related disorder
RS200347945 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
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