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
RS1021950925 CSPP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1021962985 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1021978271 XDH Health Risk Likely pathogenic Xanthinuria type II, Hereditary xanthinuria type 1
RS1021990044 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS1021994218 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS1022009453 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Inborn genetic diseases
RS1022023137 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1022025101 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1022072026 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1022076404 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1022080658 SDCCAG8 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1022105558 PCDH15 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS1022106059 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1022115135 TONSL Health Risk Likely pathogenic —
RS1022142909 COL4A2 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS1022148195 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1022152551 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1022192010 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1022194067 C7 Health Risk Pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS1022251370 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1022269942 SLC25A46 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary motor and sensory
RS1022306360 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1022325907 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1022368248 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS1022433060 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS1022453298 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1022476871 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2
RS1022524996 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS1022557448 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS1022654495 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1022699284 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1022775047 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS10227922 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS1022839092 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS1022879056 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1022880212 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1022898915 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1022917223 CIB1 Health Risk Pathogenic —
RS1022923684 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1022927322 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1022938471 MAF Health Risk Conflicting classifications of pathogenicity Cataract 21 multiple types, Ayme-Gripp syndrome
RS1023002894 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS1023010218 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS1023030953 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1023039979 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS1023059961 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1023090773 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1023099235 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1023107993 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1023125265 VWA1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1023136319 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1023180244 DOCK11 Health Risk Pathogenic DOCK11 deficiency, DOCK11 deficiency
RS1023185448 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1023212658 SHANK1 Health Risk Pathogenic —
RS1023219835 MTFMT Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS1023258232 CDK5RAP2 Health Risk Pathogenic —
RS1023259853 NUS1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IAA
RS1023270270 PUS3 Health Risk Likely pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
RS1023306013 NOTCH3 Health Risk Pathogenic/Likely pathogenic NOTCH3-related disorder, NOTCH3-related disorder
RS1023328955 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1023394201 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1023399538 PIEZO2 Health Risk Pathogenic —
RS1023413642 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1023419687 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1023469259 PNPT1 Health Risk Likely pathogenic —
RS1023520147 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1023522305 PDE6C Health Risk Likely pathogenic Achromatopsia, Cone dystrophy 4
RS1023530194 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1023534466 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1023544297 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Inborn genetic diseases
RS1023555775 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer
RS1023630527 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS1023653032 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1023705162 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1023726354 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1023746725 MYO3A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1023756732 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS1023807527 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1
RS1023850211 POLE Health Risk Pathogenic —
RS1023871853 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1023881021 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1023943999 TRAPPC12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1023974968 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1024055178 MED27 Health Risk Pathogenic Neurodevelopmental disorder with spasticity, cataracts
RS1024095026 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1O
RS1024114400 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1024126701 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1024137874 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1024148691 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1024152367 SCN9A Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS1024202736 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS1024222577 TSEN54 Health Risk Likely pathogenic —
RS1024223144 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1024226278 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1024254683 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1024279229 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS1024312183 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1024333224 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1024354123 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1024367270 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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