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
RS369095270 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369097329 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS369097872 NR5A1 Health Risk Conflicting classifications of pathogenicity Male infertility, Non-obstructive azoospermia
RS369097905 C7 Health Risk Conflicting classifications of pathogenicity Complement component 7 deficiency, Inborn genetic diseases
RS369098407 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS369098773 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS369099681 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369099686 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS369100046 AFF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369100201 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS369100205 P2RX2 Health Risk Conflicting classifications of pathogenicity —
RS369100259 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS369100678 VPS13C Health Risk Pathogenic/Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Parkinson disease
RS369100769 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS369100815 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Inborn genetic diseases
RS369101035 HBB Health Risk Conflicting classifications of pathogenicity —
RS369101323 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS369101845 SLC25A32 Health Risk Conflicting classifications of pathogenicity —
RS369102115 COL4A5 Health Risk Likely pathogenic —
RS369102740 INSR Health Risk Uncertain significance/Uncertain risk allele Leprechaunism syndrome, Rabson-Mendenhall syndrome
RS369102875 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Inborn genetic diseases
RS369103069 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS369103119 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS369103376 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS369104228 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS369104842 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS369105527 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS369105683 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS369105885 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS369106513 CHD8 Health Risk Conflicting classifications of pathogenicity CHD8-related disorder, Inborn genetic diseases
RS369106754 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS369107336 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome
RS369108080 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS369108107 TTN Health Risk Conflicting classifications of pathogenicity —
RS369108479 CANT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369108656 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Inborn genetic diseases
RS369108674 COL4A4 Health Risk Conflicting classifications of pathogenicity Glomerulonephritis, Glomerulonephritis
RS369108963 UROD Health Risk Conflicting classifications of pathogenicity Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS369110014 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS369111527 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS369112226 HPS6 Health Risk Conflicting classifications of pathogenicity —
RS369112409 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS369113632 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Autoinflammatory syndrome
RS369113667 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS369114064 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS369115472 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS369115970 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS369116388 AMER1 Health Risk Conflicting classifications of pathogenicity Osteopathia striata with cranial sclerosis, Inborn genetic diseases
RS369116471 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369116680 CYP2U1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS369116900 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS369117043 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS369117364 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Chronic lymphocytic leukemia/small lymphocytic lymphoma
RS369118592 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS369119031 AUTS2 Health Risk Conflicting classifications of pathogenicity AUTS2-related disorder, AUTS2-related disorder
RS369119794 UQCRQ Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
RS369119867 TRIOBP Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS369120013 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS369120387 MCPH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369123247 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369124504 ERCC6L2 Health Risk Pathogenic —
RS369125471 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS369125646 H6PD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369125667 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS369126109 SH3KBP1 Health Risk Conflicting classifications of pathogenicity —
RS369126350 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS369126677 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS369126891 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS369126897 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS369127299 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS369127675 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
RS369128249 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS369128969 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS369129061 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369129204 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS369131115 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ABCG8-related disorder
RS369131781 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A
RS369131814 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS369132015 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS369132677 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS369134247 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS369135156 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS369135192 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS369135875 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS369136062 CEP135 Health Risk Conflicting classifications of pathogenicity —
RS369136264 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS369136290 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS369136858 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS369137385 RXYLT1 Health Risk Pathogenic —
RS369137482 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS369138788 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS369139165 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS369140231 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS369141016 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS369141317 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369141426 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS369142038 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS369142107 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS369142200 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS369142382 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
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