SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS111385795 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS111386656 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS111386779 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS111387355 XPO5 Health Risk Conflicting classifications of pathogenicity —
RS111387770 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS111391222 COL3A1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, Ehlers-Danlos syndrome
RS111392103 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS111392631 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS111392970 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS111395856 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS111396594 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111396698 POLN Health Risk Conflicting classifications of pathogenicity —
RS111397747 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS111399879 B4GALT1 Health Risk Conflicting classifications of pathogenicity —
RS111400183 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS111400659 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS111401431 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, 8 conditions
RS111401822 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS111404182 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS111405249 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS111406690 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS111407265 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS111413134 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1114167274 FTL Health Risk Pathogenic Neuroferritinopathy, Neuroferritinopathy
RS1114167276 SMARCAD1 Health Risk Pathogenic Adermatoglyphia, Keratoderma with scleroatrophy of the extremities
RS1114167277 SMARCAD1 Health Risk Pathogenic Adermatoglyphia, Adermatoglyphia
RS1114167280 ARHGAP29 Health Risk Pathogenic Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate
RS1114167281 ARHGAP29 Health Risk Pathogenic Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate
RS1114167282 ARHGAP29 Health Risk Pathogenic Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate
RS1114167283 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Inborn genetic diseases
RS1114167284 ACO2 Health Risk Likely pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS1114167285 SARS2 Health Risk Pathogenic Hyperuricemia, pulmonary hypertension
RS1114167286 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1114167287 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1114167288 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1114167289 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS1114167290 MYO5A Health Risk Pathogenic Cerebellar cortical atrophy, Dystonic disorder
RS1114167291 ANKRD11 Health Risk Pathogenic 10 conditions, 10 conditions
RS1114167293 C12orf57 Health Risk Pathogenic 6 conditions, Temtamy syndrome
RS1114167295 MAGED2 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1114167296 TMEM47 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1114167297 KIF5B Health Risk Likely pathogenic Attention deficit hyperactivity disorder, Global developmental delay
RS1114167298 GRM7 Health Risk Pathogenic Brain atrophy, Global developmental delay
RS1114167300 GRM7 Health Risk Pathogenic/Likely pathogenic 6 conditions, Neurodevelopmental disorder with seizures
RS1114167301 GRM7 Health Risk Pathogenic/Likely pathogenic 6 conditions, Neurodevelopmental disorder with seizures
RS1114167302 MKS1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1114167303 SON Health Risk Pathogenic/Likely pathogenic Failure to thrive, Global developmental delay
RS1114167305 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1114167306 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS1114167307 GJA3 Health Risk Pathogenic/Likely pathogenic Developmental cataract, Congenital cataracts-facial dysmorphism-neuropathy syndrome
RS1114167311 CRYAA Health Risk Conflicting classifications of pathogenicity Developmental cataract, Cataract 9 multiple types
RS1114167312 CRYGS Health Risk Pathogenic Developmental cataract, Developmental cataract
RS1114167313 GCNT2 Health Risk Pathogenic Developmental cataract, Developmental cataract
RS1114167314 GCNT2 Health Risk Likely pathogenic Developmental cataract, Developmental cataract
RS1114167315 MIP Health Risk Pathogenic Developmental cataract, Developmental cataract
RS1114167316 ITPR1 Health Risk Pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS1114167317 PLAG1 Health Risk Pathogenic Silver-Russell syndrome 1, Silver-russell syndrome 4
RS1114167318 PLAG1 Health Risk Pathogenic Silver-Russell syndrome 1, Silver-russell syndrome 4
RS1114167319 HMGA2 Health Risk Pathogenic Silver-Russell syndrome 1, Silver-Russell syndrome 5
RS1114167320 HMGA2 Health Risk Pathogenic Silver-Russell syndrome 1, Silver-Russell syndrome 5
RS1114167321 IGF2 Health Risk Pathogenic Silver-Russell syndrome 1, Silver-Russell syndrome 1
RS1114167323 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S
RS1114167324 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1S, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1114167331 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1DD
RS1114167332 DES Health Risk Pathogenic Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S
RS1114167333 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S
RS1114167335 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S
RS1114167338 TTN Health Risk Likely pathogenic Left ventricular noncompaction 2, Left ventricular noncompaction 2
RS1114167340 TNNI3 Health Risk Likely pathogenic Cardiomyopathy, familial restrictive
RS1114167341 CRYAB Health Risk Likely pathogenic Cardiomyopathy, familial restrictive
RS1114167342 MYH7 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Hypertrophic cardiomyopathy
RS1114167345 LMNA Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1114167348 KMT2D Health Risk Pathogenic Smith-Magenis Syndrome-like, Smith-Magenis Syndrome-like
RS1114167349 ZEB2 Health Risk Likely pathogenic Smith-Magenis Syndrome-like, Mowat-Wilson syndrome
RS1114167350 JAKMIP1 Health Risk Pathogenic Smith-Magenis Syndrome-like, Smith-Magenis Syndrome-like
RS1114167351 MAP2K2 Health Risk Pathogenic Smith-Magenis Syndrome-like, Smith-Magenis Syndrome-like
RS1114167352 CASK Health Risk Pathogenic/Likely pathogenic Smith-Magenis Syndrome-like, CASK-related disorder
RS1114167353 GLDC Health Risk Pathogenic Smith-Magenis Syndrome-like, Smith-Magenis Syndrome-like
RS1114167354 PARD3 Health Risk Pathogenic Neural tube defect, Neural tube defect
RS1114167355 TPM1 Health Risk Likely pathogenic Pulmonary atresia with intact ventricular septum, Pulmonary atresia with intact ventricular septum
RS1114167356 TPM1 Health Risk Likely pathogenic Atrial septal defect 1, Atrial septal defect 1
RS1114167358 LIFR Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS1114167359 COL18A1 Health Risk Likely pathogenic Knobloch syndrome, Thyroid cancer
RS1114167360 TRPM6 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS1114167361 FLNC Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS1114167362 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS1114167366 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1114167370 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1114167371 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1114167374 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167375 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167377 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167378 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, 8 conditions
RS1114167379 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167380 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167381 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167382 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167384 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167385 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1114167387 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
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