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
RS768227723 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS768228172 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS768228804 SCO2 Health Risk Conflicting classifications of pathogenicity —
RS768229646 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS768230462 NBAS Health Risk Conflicting classifications of pathogenicity —
RS768230831 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS768231769 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS768231851 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS768233031 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS768233232 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS768233248 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS768233315 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS768233445 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS768235246 PYCR1 Health Risk Conflicting classifications of pathogenicity PYCR1-related disorder, PYCR1-related disorder
RS768235705 KLK4 Health Risk Likely pathogenic Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
RS768236474 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS768237094 TXNDC15 Health Risk Pathogenic Meckel-Gruber syndrome, Meckel syndrome 14
RS768237144 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS768238394 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Cerebral amyloid angiopathy
RS768238678 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, CSNK2A1-related disorder
RS768238895 DNAH9 Health Risk Likely pathogenic DNAH9-related disorder, DNAH9-related disorder
RS768241184 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS768241563 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS768241596 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS768241743 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, RASA1-related disorder
RS768242367 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS768242833 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS768243150 HTRA1 Health Risk Pathogenic/Likely pathogenic HTRA1-related disorder, CARASIL syndrome
RS768244114 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768245266 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS768245333 COL4A4 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS768245540 DOCK6 Health Risk Pathogenic —
RS76824727 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia
RS768247528 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768248277 HINT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS768248477 POPDC1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
RS768249663 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768250382 GLI3 Health Risk Conflicting classifications of pathogenicity —
RS768253909 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS768255532 LRAT Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS768257384 MYO15A Health Risk Pathogenic/Likely pathogenic Congenital sensorineural hearing impairment, Autosomal recessive nonsyndromic hearing loss 3
RS768257762 IHH Health Risk Pathogenic Brachydactyly type A1, Brachydactyly type A1
RS768257868 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS768257998 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS76825983 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS768259863 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS768260547 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS768261185 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS76826147 EPHB2 Health Risk risk factor Prostate cancer/brain cancer susceptibility, Prostate cancer/brain cancer susceptibility
RS768262653 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768262862 IMPG1 Health Risk Pathogenic —
RS768263997 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS768265052 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS768265149 IMPDH1 Health Risk Conflicting classifications of pathogenicity —
RS768265778 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, AXIN2-related attenuated familial adenomatous polyposis
RS768269251 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS768269976 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, CEP57-related disorder
RS768270021 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS768272302 PEX26 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS768272570 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS768273248 NDUFAF6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 17
RS768273651 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS768273900 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768275402 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS768275798 AASS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperlysinemia
RS768277427 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768278935 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Autosomal recessive retinitis pigmentosa
RS768280699 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS768281648 BACH2 Health Risk Conflicting classifications of pathogenicity —
RS768283155 APC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768284272 POGZ Health Risk Conflicting classifications of pathogenicity Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS768284828 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS768285660 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
RS768286024 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768286092 PPP1CB Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome
RS768286281 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS768286324 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS768286574 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS768287089 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS768288230 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS768289137 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS768290318 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS768290597 ACTG2 Health Risk Pathogenic Visceral myopathy 1, Visceral myopathy 1
RS768291371 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS768291477 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS768292011 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS768292284 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Inborn genetic diseases
RS768292803 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS768293070 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS768293167 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS768294248 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS768295360 TECTA Health Risk Pathogenic Rare genetic deafness, Inborn genetic diseases
RS768298662 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS768299251 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS768299416 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS768299417 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C
RS768299607 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768299786 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS768300296 SPEG Health Risk Pathogenic Myopathy, centronuclear
RS768301915 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
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