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
RS74935043 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS749351255 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS749351351 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel syndrome
RS74935155 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS749354343 DACT1 Health Risk Conflicting classifications of pathogenicity —
RS749355080 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS749355583 ADGRG6 Health Risk Pathogenic Arthrogryposis multiplex congenita, Lethal congenital contracture syndrome 9
RS749356221 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749356883 RHO Health Risk Likely pathogenic —
RS749358773 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS749359334 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS749360244 TECTA Health Risk Pathogenic —
RS749360497 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS749361266 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS749361351 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
RS749361897 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS749363866 SPTA1 Health Risk Conflicting classifications of pathogenicity SPTA1-related disorder, SPTA1-related disorder
RS749363958 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS749364042 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Aortic aneurysm
RS749364709 DNAH9 Health Risk Likely pathogenic Primary ciliary dyskinesia, Ciliary dyskinesia
RS749366506 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS749367382 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS749368197 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS749368415 RFXAP Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS749368644 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS749368841 UCHL1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia 79A, autosomal dominant
RS749368980 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS749370057 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS749371676 CTDP1 Health Risk Conflicting classifications of pathogenicity Congenital cataracts-facial dysmorphism-neuropathy syndrome, Congenital cataracts-facial dysmorphism-neuropathy syndrome
RS749372185 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS749372718 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749373078 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749375920 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS749376259 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS749376396 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS749376421 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS749377569 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS749378322 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS749378397 POP1 Health Risk Pathogenic —
RS749379584 ARSK Health Risk Pathogenic Mucopolysaccharidosis, type 10
RS749379604 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer
RS749380479 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749380628 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS749381544 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS74938180 HFM1 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 9, Premature ovarian failure 9
RS749382493 MIB1 Health Risk Likely pathogenic —
RS749382891 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Inborn genetic diseases
RS749383170 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS749383225 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS749383450 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS749383532 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS749383639 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS749383704 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS749383757 INPP5K Health Risk Likely pathogenic Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
RS749383814 VWA1 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS749383906 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS749384046 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749384668 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS749385408 TNFRSF4 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to OX40 deficiency, Combined immunodeficiency due to OX40 deficiency
RS749386499 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS749387422 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS749388407 CENPF Health Risk Pathogenic —
RS749388815 NR3C1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid resistance, Glucocorticoid resistance
RS749389756 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS749389984 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS749390013 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS749390229 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS749390416 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749390823 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS749390953 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS749392116 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS749396563 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS749397968 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749398266 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS749398563 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS749399846 OBSL1 Health Risk Likely pathogenic 3M syndrome 2, 3M syndrome 2
RS749400108 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS749401561 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases
RS749401877 PGAP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749402521 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS749403663 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS749404479 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS749405096 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS749405703 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749406391 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS749406453 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS749406474 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS749407085 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749407588 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS749409414 DNAH9 Health Risk Pathogenic/Likely pathogenic Ciliary dyskinesia, primary
RS749409983 ABHD12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ABHD12-related disorder
RS749410700 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS749411240 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS749412697 BPTF Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS749413158 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749413196 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749414257 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS749414404 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS749414480 THAP1 Health Risk Pathogenic/Likely pathogenic Torsion dystonia 6, Torsion dystonia 6
RS749414711 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Hereditary spastic paraplegia
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