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
RS139046903 FLNB Health Risk Conflicting classifications of pathogenicity —
RS1390469424 OCLN Health Risk Pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS1390479623 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS139048558 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder
RS139049058 MYO1E Health Risk Conflicting classifications of pathogenicity MYO1E-related disorder, MYO1E-related disorder
RS139049098 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS139049536 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Inborn genetic diseases
RS1390498839 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Monogenic hearing loss
RS139049989 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS139050119 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS139051143 SLC26A2 Health Risk Conflicting classifications of pathogenicity Diastrophic dysplasia, Atelosteogenesis type II
RS139051724 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS139051768 PIEZO1 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
RS1390518337 MAK Health Risk Pathogenic —
RS139052054 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS139052197 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS139052284 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS139052578 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS139052774 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139052887 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS139052892 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS139053473 CTSB Health Risk Conflicting classifications of pathogenicity —
RS1390541519 TMEM67 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS1390541592 PDGFB Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS1390547777 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS139054881 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS139054969 CS Health Risk Conflicting classifications of pathogenicity —
RS1390552303 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS139055416 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1390562340 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS139056492 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Hepatocellular carcinoma
RS1390577765 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS139057918 SLC11A2 Health Risk Conflicting classifications of pathogenicity Microcytic anemia with liver iron overload, Uveal melanoma
RS139058991 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS139059149 TPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TPP1-related disorder
RS1390592487 STIM1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to STIM1 deficiency, Stormorken syndrome
RS139059552 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS139059738 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS139059770 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS139059968 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS139060277 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS139061260 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, HPS1-related disorder
RS1390620949 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS139063293 NCAPD2 Health Risk Conflicting classifications of pathogenicity NCAPD2-related disorder, Inborn genetic diseases
RS139063441 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS139063552 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS139063843 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, Neu-Laxova syndrome 1
RS139063885 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS139064235 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS139065525 HYCC1 Health Risk Likely pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS139065588 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS139066705 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS139067269 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139067427 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS139068225 C12orf57 Health Risk Conflicting classifications of pathogenicity Temtamy syndrome, Clear cell carcinoma of kidney
RS1390685552 GFM1 Health Risk Likely pathogenic —
RS139069413 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Inborn genetic diseases
RS1390696376 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS139069946 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS139070070 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS139070088 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1390701361 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS139070796 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1390709680 FBLN5 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 2
RS139071351 PLG Health Risk Conflicting classifications of pathogenicity PLG-related disorder, Plasminogen deficiency
RS139071827 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Lethal acantholytic epidermolysis bullosa
RS139073416 PIGV Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases
RS139073821 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder
RS139075013 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS139075637 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS139075817 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS1390761338 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139076247 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Inborn genetic diseases
RS139076605 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS139076647 PPA2 Health Risk Pathogenic/Likely pathogenic Sudden cardiac failure, infantile
RS139076870 NUP205 Health Risk Conflicting classifications of pathogenicity —
RS139077453 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1390774664 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS139078082 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS1390782540 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS139078338 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS139078502 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS139078629 FN1 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS139078985 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS139079107 AIPL1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 4
RS139079635 KCNJ11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139079964 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS139080358 CFAP43 Health Risk Pathogenic Normal pressure hydrocephalus, Normal pressure hydrocephalus
RS139080716 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS139081314 CAMK2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS139081695 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS139082536 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS1390835981 RDH5 Health Risk Pathogenic —
RS1390842582 TTN Health Risk Conflicting classifications of pathogenicity —
RS139084702 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, See cases
RS1390856264 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS139086093 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases
RS139087859 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1390882998 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS1390889028 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
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