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
RS1367115848 F7 Health Risk Likely pathogenic Factor VII deficiency, Congenital factor VII deficiency
RS1367121673 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1367142675 TRIT1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mitochondrial disease
RS1367145848 SYNJ1 Health Risk Conflicting classifications of pathogenicity Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS1367201083 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1367206658 SLC2A10 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
RS1367210165 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1367214521 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1367215268 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS1367224902 CHRNG Health Risk Likely pathogenic —
RS1367225717 EHMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1367232226 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1367238054 KAT6A Health Risk Conflicting classifications of pathogenicity KAT6A-related disorder, KAT6A-related disorder
RS1367262797 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Neurodevelopmental disorder
RS1367268677 NEK8 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Renal-hepatic-pancreatic dysplasia 2
RS1367275342 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1367289835 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1367292809 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1367335682 PKD1 Health Risk Pathogenic —
RS1367336734 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS1367341478 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1367344104 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1367350631 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1367352545 KRT1 Health Risk Likely pathogenic —
RS1367362454 SEPSECS Health Risk Pathogenic —
RS1367364158 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS1367385862 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1367396955 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1367402208 POLE Health Risk Pathogenic —
RS1367402633 MTR Health Risk Likely pathogenic —
RS1367425262 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1367426610 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1367439751 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Renal cell carcinoma
RS1367444910 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1367454316 SZT2 Health Risk Pathogenic SZT2-related disorder, SZT2-related disorder
RS1367462378 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1367505804 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1367514850 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1367522452 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS1367528939 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS1367543388 NBAS Health Risk Pathogenic —
RS1367545625 MYRF Health Risk Pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS1367550528 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1367567191 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1367585890 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1367615271 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1367617850 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1367633896 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1367661704 GAMT Health Risk Conflicting classifications of pathogenicity Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS1367668493 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1367674744 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS1367685651 ADGRG1 Health Risk Conflicting classifications of pathogenicity —
RS1367689213 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS1367694162 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1367720345 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1367725176 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1367736540 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1367740488 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1367746167 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1367759005 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS1367760687 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1367761716 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1367777385 SKIC2 Health Risk Pathogenic —
RS1367784766 TNNT3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS1367797614 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS1367809298 BICD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS1367820520 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1367822001 COL2A1 Health Risk Pathogenic —
RS1367823627 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1367846935 BCS1L Health Risk Pathogenic —
RS1367858373 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1367861495 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS1367867218 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1367899236 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1367905743 AEBP1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic-like
RS1367906290 COL4A4 Health Risk Pathogenic Hematuria, Hematuria
RS1367927635 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1367958450 DEGS1 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1368001965 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1368005133 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1368013631 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease
RS1368027694 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS1368031096 GSTZ1 Health Risk Likely pathogenic Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency
RS1368074390 OCA2 Health Risk Pathogenic OCA2-related disorder, OCA2-related disorder
RS1368075571 ARID2 Health Risk Pathogenic —
RS1368086969 SCARF2 Health Risk Likely pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS1368090073 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Thyroid cancer
RS1368099067 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1368101093 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1368105372 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 4
RS1368119296 MTO1 Health Risk Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1368132952 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1368134215 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1368171478 MMUT Health Risk Likely pathogenic —
RS1368182301 PYGL Health Risk Likely pathogenic Glycogen storage disease, type VI
RS1368193719 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1368205104 SZT2 Health Risk Likely pathogenic —
RS1368221807 GDF6 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS1368222485 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1368238343 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
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