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
RS2069548 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS2069560803 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2069566 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS2069578995 SOCS1 Health Risk Pathogenic/Likely pathogenic Systemic lupus erythematosus, AUTOINFLAMMATORY SYNDROME
RS2069579242 SOCS1 Health Risk Likely pathogenic Autoinflammatory syndrome with immunodeficiency, Autoinflammatory syndrome with immunodeficiency
RS2069582666 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2069582817 NBEA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2069586831 SOCS1 Health Risk Pathogenic/Likely pathogenic Systemic lupus erythematosus, AUTOINFLAMMATORY SYNDROME
RS2069587477 SOCS1 Health Risk Pathogenic Autoimmune hemolytic anemia, Autoimmune thrombocytopenia
RS2069590640 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2069591720 NBEA Health Risk Likely pathogenic —
RS2069594174 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069601265 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069601882 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069602426 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069602711 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069603045 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069603579 NF1 Health Risk Pathogenic NF1-related disorder, Neurofibromatosis
RS2069605987 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069606043 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069606635 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069607664 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069655229 MAPKAPK5 Health Risk Pathogenic Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
RS2069660959 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2069668717 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069669492 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069670110 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069670563 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069670885 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069671270 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069671730 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069671900 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069681044 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069681259 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069681958 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069682584 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069683635 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069684176 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069684411 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069687169 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069687450 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069687965 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069689101 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069689307 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069690617 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069691007 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069691055 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069691114 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069691466 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069704009 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069704188 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069704625 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069704915 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069705203 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069705362 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069705474 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069706454 NF1 Health Risk Likely pathogenic —
RS2069707503 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069707755 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069708160 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069709 IFNG Health Risk Pathogenic Acquired immunodeficiency syndrome, rapid progression to
RS2069709336 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069716520 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2069717157 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069717621 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069717916 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069718249 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069718437 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069718829 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069719445 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2069724056 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069724442 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069724582 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069724925 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069724967 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069725054 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069725866 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069727121 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069727438 NF1 Health Risk Likely pathogenic —
RS2069727641 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069728377 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS2069729948 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2069742393 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069742475 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069742524 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069742717 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069743106 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069743252 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069743464 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069743547 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069743612 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069744859 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069745140 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069745354 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069778929 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2069779430 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2069789572 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069790028 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2069790360 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069790543 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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