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
RS2048708701 ARX Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 1
RS2048711878 ARX Health Risk Pathogenic —
RS2048712192 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS2048712606 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS2048714302 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2048717087 PDE6D Health Risk Likely pathogenic Joubert syndrome 22, Joubert syndrome 22
RS2048744617 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2048769063 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS2048816852 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2048818361 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2048831313 ARHGEF9 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS2048833496 ARHGEF9 Health Risk Likely pathogenic —
RS2048834387 TANC2 Health Risk Likely pathogenic Developmental delay, Epilepsy
RS2048893092 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Fanconi anemia complementation group O
RS2048894318 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2048929422 TANC2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2048962401 MYT1L Health Risk Pathogenic —
RS2048967703 MYT1L Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS2048968935 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS2048988947 TANC2 Health Risk Pathogenic/Likely pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES, Neurodevelopmental disorder
RS2048990416 TANC2 Health Risk Pathogenic/Likely pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Developmental delay
RS2048999762 TANC2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2049017627 TANC2 Health Risk Likely pathogenic Developmental delay, Developmental delay
RS2049019457 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS2049020585 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS2049022161 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2049025668 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS2049026547 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2049038862 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2049050015 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS2049051428 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS2049052530 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2049052992 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2049058298 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2049058963 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2049059647 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2049060332 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2049060862 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2049072767 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS2049079486 NAGS Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III
RS2049080644 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS2049082368 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2049086224 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2049089565 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2049097502 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS2049097522 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2049106256 NAGS Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III
RS2049106504 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2049106859 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS2049119534 AMT Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS2049123051 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2049124862 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS2049262622 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2049301523 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS2049307995 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2049339111 COG4 Health Risk Likely pathogenic —
RS2049398530 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2049409571 TTN Health Risk Likely pathogenic —
RS2049473367 RAD51C Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2049489016 KCNMA1 Health Risk Likely pathogenic Intellectual disability, Liang-Wang syndrome
RS2049504624 MADD Health Risk Pathogenic Deeah syndrome, Deeah syndrome
RS2049521857 ANO4 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2049522225 ANO4 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2049528619 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2049531217 PCDH15 Health Risk Likely pathogenic —
RS2049552830 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2049559202 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2049559215 PPARG Health Risk Likely pathogenic Obesity, Obesity
RS2049559372 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2049563238 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2049564336 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2049566471 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS2049568799 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2049572412 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2049594204 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS2049594311 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS2049604095 SOD1 Health Risk Likely pathogenic —
RS2049618449 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS2049629009 ACE Health Risk Likely pathogenic —
RS2049640804 MADD Health Risk Pathogenic Deeah syndrome, Deeah syndrome
RS2049677875 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2049710031 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2049726544 COG4 Health Risk Pathogenic COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS2049733161 MYL11 Health Risk Pathogenic/Likely pathogenic Distal arthrogryposis, Arthrogryposis
RS2049738010 ACE Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS2049768364 MYL11 Health Risk Pathogenic/Likely pathogenic Distal arthrogryposis, Arthrogryposis
RS2049829612 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS2049829935 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS2049830881 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS2049858551 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS2049935254 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS2049944547 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2049960403 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2049985232 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2049992612 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS2049994399 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS2050008898 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS2050024015 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2050024892 TTN Health Risk Likely pathogenic Hypertrophic cardiomyopathy 9, Hypertrophic cardiomyopathy 9
RS2050027504 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
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