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
RS2470964976 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470965024 MLH1 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2470965080 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470965173 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470965194 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470965301 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2470965363 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470965396 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470965645 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470965824 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470965853 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470966040 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470966392 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2470966628 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470966644 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2470966746 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470967737 UNC80 Health Risk Pathogenic —
RS2470967977 UNC80 Health Risk Pathogenic —
RS2470968919 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470969678 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470970320 UNC80 Health Risk Pathogenic —
RS2470970373 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2470970509 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470971480 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470971793 CACNA2D2 Health Risk Likely pathogenic Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay
RS2470971971 CACNA2D2 Health Risk Pathogenic —
RS2470974058 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470974723 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2470976611 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2470976938 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2470977242 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470978497 UNC80 Health Risk Likely pathogenic —
RS2470980570 CACNA2D2 Health Risk Likely pathogenic —
RS2470981373 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2470981449 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2470981548 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2470981573 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2470981983 TTN Health Risk Likely pathogenic —
RS2470982805 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470983262 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2470983451 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470983712 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470985174 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470985275 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Myopathy
RS2470985498 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470985614 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470986573 TTN;TTN-AS1 Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2470990473 FLNB Health Risk Pathogenic —
RS2470992924 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470995867 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470996522 FLNB Health Risk Likely pathogenic —
RS2470996526 FLNB Health Risk Pathogenic —
RS2470996560 FLNB Health Risk Likely pathogenic FLNB-related disorder, FLNB-related disorder
RS2470998200 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470999537 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471000564 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2471003768 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471003978 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471004576 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471004624 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471004958 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471005012 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471005072 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471005767 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471006494 FLNB Health Risk Likely pathogenic Atelosteogenesis type I, Atelosteogenesis type I
RS2471006570 FLNB Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS2471007479 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471007483 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471007494 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471007576 SLC25A20 Health Risk Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS2471009457 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471009593 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471009652 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471009737 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471009927 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471010371 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471010539 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471010782 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471010889 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471011138 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471011164 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471011487 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2471011491 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471011559 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2471011668 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471011707 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2471011783 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS2471011843 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471012485 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471012691 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471012741 MLH1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2471012759 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471012821 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471013311 MLH1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2471013628 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471013728 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471017162 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2471017401 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471019114 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471019482 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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