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
RS201987709 TPM2 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal
RS201987892 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS201987973 C19orf12 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43
RS201988060 AKR1D1 Health Risk Likely pathogenic —
RS201988169 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS201988277 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201988389 NDUFB8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201988582 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Senior-Loken syndrome 6
RS201988841 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS201989024 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS201989042 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS201989155 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS201989363 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS201989825 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS201990020 CTSC Health Risk Likely pathogenic Haim-Munk syndrome, Periodontitis
RS201990326 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201990496 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS201990547 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Channelopathy-associated congenital insensitivity to pain
RS201990887 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS201990892 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS201991252 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS201991361 F7 Health Risk Pathogenic/Likely pathogenic Congenital factor VII deficiency, Myocardial infarction
RS201991587 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS201991639 ABCG8 Health Risk Conflicting classifications of pathogenicity Gallbladder disease 4, Sitosterolemia 1
RS201991648 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, FARS2-related disorder
RS201991864 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201992075 CHD4 Health Risk Conflicting classifications of pathogenicity Sifrim-Hitz-Weiss syndrome, Glioma susceptibility 1
RS201992220 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS201992354 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS201992642 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201992974 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS201993286 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS201993443 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS201994383 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS201994393 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, SLC10A2-related disorder
RS201994476 CD3D Health Risk Conflicting classifications of pathogenicity Immunodeficiency 19, Immunodeficiency 19
RS201994523 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS201994921 NMNAT1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 9, Spondyloepiphyseal dysplasia
RS201995028 CFHR1 Health Risk Conflicting classifications of pathogenicity —
RS201995608 TENM4 Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS201995780 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS201995891 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS201996040 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS201996522 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FGD1-related disorder
RS201996553 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS201996575 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS201996712 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS201996778 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS201996796 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS201996833 NR0B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
RS201996851 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201996928 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS201996979 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Age related macular degeneration 2
RS201997285 IL11RA Health Risk Conflicting classifications of pathogenicity —
RS201997632 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS201997888 RGS9 Health Risk Conflicting classifications of pathogenicity RGS9-related disorder, Inborn genetic diseases
RS201998231 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS201998260 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 28, Inborn genetic diseases
RS201998372 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS201998409 RO60 Health Risk Conflicting classifications of pathogenicity —
RS201998644 GFAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201998680 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS201998913 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS201999021 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS201999373 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS201999494 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS201999500 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS201999622 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADGRV1-related disorder
RS201999864 TUBGCP4 Health Risk Conflicting classifications of pathogenicity —
RS201999986 DNA2 Health Risk Conflicting classifications of pathogenicity DNA2-related disorder, Inborn genetic diseases
RS202000049 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, Short stature due to growth hormone secretagogue receptor deficiency
RS202000092 L1CAM Health Risk Conflicting classifications of pathogenicity MASA syndrome, MASA syndrome
RS202000367 TNNC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z
RS202000595 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS202001097 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS202001155 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS202001213 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS202001245 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS202001247 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS202001274 MAPKBP1 Health Risk Pathogenic Nephronophthisis 20, Nephronophthisis 20
RS202001697 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS202001756 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, MAK-related disorder
RS202001776 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS202002020 NDUFB11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202002028 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS202002052 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS202002135 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS202002249 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS202002349 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS202003146 F2 Health Risk Pathogenic Congenital prothrombin deficiency, Ischemic stroke
RS202003206 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS202003390 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS202003543 TNNI3K Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202003795 HIKESHI Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 13, HIKESHI-related disorder
RS202003805 PRSS1 Health Risk Pathogenic/Likely pathogenic Hereditary pancreatitis, Recurrent pancreatitis
RS202004044 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202004152 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis 4
RS202004587 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS202004680 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS202004830 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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