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
RS1553609359 TRAF3IP1 Health Risk Likely pathogenic —
RS1553609515 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553609675 TTN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553609795 RAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RASopathy
RS1553609870 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1553609996 RAF1 Health Risk Likely pathogenic —
RS1553610155 RAF1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS1553610240 TRIP12 Health Risk Pathogenic —
RS1553610329 TRIP12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553610371 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1553610382 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS1553610553 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS1553610974 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS1553610984 THRB Health Risk Likely pathogenic Thyroid hormone resistance, generalized
RS1553611016 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS1553611025 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS1553611038 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS1553611040 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1553611044 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS1553611055 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS1553611075 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS1553611083 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS1553611086 THRB Health Risk Conflicting classifications of pathogenicity —
RS1553611094 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS1553611773 TTN Health Risk Likely pathogenic —
RS1553611778 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS1553611789 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS1553611876 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553611909 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553611947 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS1553611989 TTN Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1553612005 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553612082 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553612117 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553612143 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, Mucopolysaccharidosis
RS1553612145 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS1553612150 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS1553612158 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553612164 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553612184 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553612188 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553612189 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS1553612205 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1553612213 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS1553612216 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553612220 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS1553612222 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553612309 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS1553612321 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553612358 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS1553612386 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553612433 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553612461 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553612499 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553612617 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa
RS1553612629 LZTFL1 Health Risk Likely pathogenic —
RS1553612904 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553612928 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS1553612999 TTN Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1553613022 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 5
RS1553613123 THRB Health Risk Likely pathogenic —
RS1553613303 COL7A1 Health Risk Pathogenic —
RS1553613528 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1553614300 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS1553614310 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1553614347 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1553614378 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553614449 CAV3 Health Risk Likely pathogenic —
RS1553614521 TTN Health Risk Likely pathogenic —
RS1553614642 ABHD5 Health Risk Pathogenic —
RS1553614863 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553614878 COL7A1 Health Risk Pathogenic —
RS1553614952 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553614963 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1553614987 TTN Health Risk Pathogenic —
RS1553615089 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553615092 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553615102 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553615121 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553615135 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553615184 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553615846 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553616235 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1553616253 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS1553616312 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1553616339 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1553616352 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1553616361 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1553616431 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553616447 ABHD5 Health Risk Pathogenic —
RS1553616457 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1553616463 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS1553616478 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1553616508 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1553616622 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553617378 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553617407 TTN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553618323 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1553618354 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1553619103 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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