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
RS138687850 ABCC8 Health Risk Conflicting classifications of pathogenicity Leucine-induced hypoglycemia, Hyperinsulinemic hypoglycemia
RS1386887007 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Hearing loss
RS138689221 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Coffin-Siris syndrome
RS138690353 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS138690517 KLHL17 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS138690529 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, TG-related disorder
RS138690664 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Childhood hypophosphatasia
RS1386910185 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS1386913118 EPM2A Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy of Lafora 1, Lafora disease
RS1386927449 PDE6A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS138693104 COG4 Health Risk Conflicting classifications of pathogenicity COG4-congenital disorder of glycosylation, Inborn genetic diseases
RS1386935097 TSEN54 Health Risk Pathogenic —
RS138694766 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS138694883 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS138694965 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS138695265 MTR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblG, Neural tube defects
RS138695453 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS138695961 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS138696398 ADGRA3 Health Risk Conflicting classifications of pathogenicity —
RS138697796 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1386979449 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS138698439 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS138698611 GATA3 Health Risk Pathogenic —
RS1386986367 TET2 Health Risk Pathogenic —
RS138699045 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1386991114 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS138699340 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Inborn genetic diseases
RS138699534 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS138699617 AGA Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Aspartylglucosaminuria
RS1387003933 HIKESHI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138700741 ABCC6 Health Risk Conflicting classifications of pathogenicity ABCC6-related disorder, Autosomal recessive inherited pseudoxanthoma elasticum
RS138701123 COG4 Health Risk Conflicting classifications of pathogenicity COG4-congenital disorder of glycosylation, Inborn genetic diseases
RS138701264 SLC9A7 Health Risk Conflicting classifications of pathogenicity —
RS138702144 PTCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138702315 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1387025330 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS138703731 MAOA Health Risk Conflicting classifications of pathogenicity Brunner syndrome, Inborn genetic diseases
RS138703739 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS138704724 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS138704967 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Inborn genetic diseases
RS138705202 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS138705565 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS138705803 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS1387058171 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS1387074664 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS138707520 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS138707536 CCDC50 Health Risk Conflicting classifications of pathogenicity —
RS138707718 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS138708497 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS138709216 KIAA1549 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS1387093211 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS13871 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS138710333 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS138710531 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1387108152 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS1387119011 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS138712375 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1387126664 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS138712673 MRPS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 36, MRPS2-related disorder
RS1387128853 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS1387140766 ST3GAL3 Health Risk Pathogenic Intellectual disability, autosomal recessive 12
RS1387151592 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1387157979 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1387164225 COL11A2 Health Risk Pathogenic/Likely pathogenic COL11A2-related disorder, COL11A2-related disorder
RS1387166862 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS138716837 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS138717457 UBE3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1387186484 ACE Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS138718997 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1387199656 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1387203768 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS1387205085 CFH Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome, Factor H deficiency
RS1387214955 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS138722406 EXT2 Health Risk Conflicting classifications of pathogenicity Seizures-scoliosis-macrocephaly syndrome, Exostoses
RS1387242348 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS138724933 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Meckel syndrome
RS138725242 CETP Health Risk Conflicting classifications of pathogenicity Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS138725914 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS138726443 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS138727329 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS138727410 COQ8A Health Risk Conflicting classifications of pathogenicity COQ8A-related disorder, COQ8A-related disorder
RS138727741 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138727886 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS138728046 AVIL Health Risk Likely pathogenic Nephrotic syndrome, type 21
RS138728557 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS138729094 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS138729161 ALOX12B Health Risk Conflicting classifications of pathogenicity ALOX12B-related disorder, ALOX12B-related disorder
RS138729240 ENAM Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, Amelogenesis imperfecta
RS138729528 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS138730481 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, CUL7-related disorder
RS138731505 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 3A (Zellweger), Inborn genetic diseases
RS138731836 LBR Health Risk Conflicting classifications of pathogenicity —
RS138732534 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS138732723 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS138732899 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS138734772 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS138735919 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS138736028 KIF7 Health Risk Pathogenic/Likely pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS138737928 DCPS Health Risk Pathogenic Al-Raqad syndrome, Al-Raqad syndrome
RS138738105 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
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