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
RS200620279 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases
RS200620291 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 12, Retinal macular dystrophy type 2
RS200620434 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS200620662 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS200620805 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS200620811 ALPK2 Health Risk Conflicting classifications of pathogenicity —
RS200621033 ZFHX4 Health Risk Conflicting classifications of pathogenicity —
RS200621047 NPHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200621180 ALPL Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Adult hypophosphatasia
RS200621254 WNK3 Health Risk Conflicting classifications of pathogenicity —
RS200621380 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200621431 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS200621611 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS200621622 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200621867 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS200621976 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS200622119 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS200622493 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS200622588 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS200622636 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS200622688 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Thrombocytopenia
RS200622741 FLG Health Risk Pathogenic Ichthyosis vulgaris, Dermatitis
RS200622841 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS200622912 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS200623247 ITGA3 Health Risk Likely pathogenic ITGA3-related disorder, ITGA3-related disorder
RS200623501 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200624125 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200624197 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS200624351 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS200624729 C5 Health Risk Conflicting classifications of pathogenicity —
RS200624735 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS200624778 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS200624784 SBF1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS200624920 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200625614 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS200625655 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS200625851 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
RS200625860 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS200625964 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADNP-related disorder
RS200626376 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, SGCA-related disorder
RS200626456 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS200626788 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Oto-palato-digital syndrome
RS200626822 TSEN34 Health Risk Conflicting classifications of pathogenicity —
RS200626873 ADPRS Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS200626971 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS200627037 PIK3CA Health Risk Conflicting classifications of pathogenicity Facial asymmetry, Overgrowth
RS200628085 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200628118 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS200628199 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, SLX4-related disorder
RS200629089 PNLDC1 Health Risk Pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Spermatogenic failure 57
RS200629599 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS200630803 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS200630872 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS200631005 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS200631556 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS200631641 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS200631895 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS200631909 BSCL2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS200632069 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS200632307 HERC2 Health Risk Conflicting classifications of pathogenicity Developmental delay with autism spectrum disorder and gait instability, Acute myeloid leukemia
RS200632520 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS200632859 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS200632887 SHPK Health Risk Conflicting classifications of pathogenicity —
RS200633053 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS200633158 MKKS Health Risk Pathogenic Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
RS200633191 SLC6A9 Health Risk Conflicting classifications of pathogenicity Atypical glycine encephalopathy, Inborn genetic diseases
RS200633361 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS200633475 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS200633947 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200634448 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS200634807 NCSTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200634990 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS200635063 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinitis pigmentosa 88
RS200635355 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Autosomal dominant nonsyndromic hearing loss 13
RS200635365 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS200635457 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS200635842 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS200635865 SVEP1 Health Risk Conflicting classifications of pathogenicity —
RS200635937 GPR161 Health Risk Conflicting classifications of pathogenicity Pituitary stalk interruption syndrome, Medulloblastoma
RS200636353 PSEN2 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, Dilated cardiomyopathy 1V
RS200636395 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200636455 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS200636537 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200636818 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS200637035 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS200637441 MECR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200637478 KLF1 Health Risk Conflicting classifications of pathogenicity —
RS200637508 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS200637525 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS200637566 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200637649 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS200637767 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS200637817 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Retinal dystrophy
RS200637980 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS200638114 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, KDM6A-related disorder
RS200638121 COMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200638406 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS200638595 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS200638996 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS200639044 LMBRD1 Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
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