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
RS2471439603 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471439812 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471440173 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471440473 BTD Health Risk Pathogenic —
RS2471441254 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471441898 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471442152 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471443659 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471444636 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Cardiovascular phenotype
RS2471444684 TNNC1 Health Risk Pathogenic Dilated cardiomyopathy 1Z, Dilated cardiomyopathy 1Z
RS2471447399 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471447986 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471448650 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471449105 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2
RS2471449387 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471449415 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2471449428 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471449533 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS2471449819 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471453840 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471454597 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471454924 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471455000 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471455384 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471456258 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471457123 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471457610 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471457687 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471458042 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471458224 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471458350 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471458528 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471458722 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471459148 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471459149 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471459479 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471459600 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471459675 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471459701 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471459820 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471460101 TTN Health Risk Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1G
RS2471460324 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471460737 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471461031 MLH1 Health Risk Pathogenic Muir-Torré syndrome, Muir-Torré syndrome
RS2471461367 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471461404 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471461758 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471462609 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2471462761 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2471469955 BRPF1 Health Risk Pathogenic BRPF1-related disorder, BRPF1-related disorder
RS2471470636 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2471470926 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471470951 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471470978 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471471419 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471471463 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471471534 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471471577 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471471760 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471471840 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471472319 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471472661 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471472984 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471473234 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471473667 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471474035 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471474144 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471474292 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2471474473 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471474603 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471474687 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471474948 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471475191 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471475338 BRPF1 Health Risk Likely pathogenic —
RS2471475373 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471475553 MLH1 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471475827 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471476647 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471477155 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471477323 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471477479 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471477797 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471477845 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471478138 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471478642 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471478767 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2471478910 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471479049 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2471479367 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471479385 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2471479428 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471479459 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471481346 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471485111 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2471485313 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471487911 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471489744 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471491093 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471496418 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471496829 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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