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
RS2532075098 ADGRV1 Health Risk Pathogenic —
RS2532075547 DDX41 Health Risk Likely pathogenic DDX41-related disorder, DDX41-related disorder
RS2532075844 DDX41 Health Risk Pathogenic —
RS2532076376 ADGRV1 Health Risk Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS2532076691 DDX41 Health Risk Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome
RS2532079821 DDX41 Health Risk Pathogenic —
RS2532080007 DDX41 Health Risk Likely pathogenic —
RS2532080974 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2532083492 DDX41 Health Risk Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome
RS2532083613 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS2532083882 DDX41 Health Risk Pathogenic —
RS2532084404 ADGRV1 Health Risk Pathogenic —
RS2532085882 DDX41 Health Risk Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder
RS2532087304 ADGRV1 Health Risk Pathogenic —
RS2532087760 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532088101 ADGRV1 Health Risk Pathogenic —
RS2532088198 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532088224 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532088290 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532088340 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532088466 DDX41 Health Risk Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related disorder
RS2532088551 DDX41 Health Risk Pathogenic —
RS2532088875 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532088991 DDX41 Health Risk Likely pathogenic —
RS2532089356 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532089562 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532089565 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532089693 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532089906 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532090086 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532090185 ADGRV1 Health Risk Pathogenic —
RS2532090465 DDX41 Health Risk Likely pathogenic DDX41-related disorder, DDX41-related disorder
RS2532091583 DDX41 Health Risk Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS2532091739 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS2532091973 DDX41 Health Risk Conflicting classifications of pathogenicity —
RS2532092356 DDX41 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2532092912 ADGRV1 Health Risk Pathogenic —
RS2532093823 ADGRV1 Health Risk Pathogenic —
RS2532099835 SMN1 Health Risk Pathogenic Kugelberg-Welander disease, Kugelberg-Welander disease
RS2532100044 SMN1 Health Risk Pathogenic —
RS2532106399 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532106510 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532106520 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532106632 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532106666 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532106745 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532106834 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532112298 SMN1 Health Risk Pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS2532112318 SMN1 Health Risk Likely pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS2532112594 SMN1 Health Risk Likely pathogenic Kugelberg-Welander disease, Werdnig-Hoffmann disease
RS2532112958 SMN1 Health Risk Pathogenic Spinal muscular atrophy, type II
RS2532112991 SMN1 Health Risk Pathogenic/Likely pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS2532113034 SMN1 Health Risk Pathogenic Spinal muscular atrophy, type II
RS2532113776 ADGRV1 Health Risk Pathogenic —
RS2532113899 ADGRV1 Health Risk Pathogenic —
RS2532115189 ADGRV1 Health Risk Pathogenic —
RS2532117208 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532117630 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532120119 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532120155 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532120820 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532120947 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532125221 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532125261 FNIP1 Health Risk Pathogenic —
RS2532125524 FNIP1 Health Risk Pathogenic —
RS2532125817 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532126303 SMN1 Health Risk Likely pathogenic Kugelberg-Welander disease, Kugelberg-Welander disease
RS2532126489 SMN1 Health Risk Pathogenic Kugelberg-Welander disease, Kugelberg-Welander disease
RS2532126565 SMN1 Health Risk Likely pathogenic Kugelberg-Welander disease, Kugelberg-Welander disease
RS2532126706 SMN1 Health Risk Pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS2532127475 FNIP1 Health Risk Pathogenic —
RS2532128437 FNIP1 Health Risk Pathogenic —
RS2532129473 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532129695 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532129779 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532134216 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532134294 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532134542 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532134741 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532134826 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532134878 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532137951 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532138089 SLC4A1 Health Risk Pathogenic —
RS2532138401 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532138747 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532138779 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532138789 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2532139003 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532139587 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2532139612 FNIP1 Health Risk Pathogenic —
RS2532139992 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Classic or attenuated familial adenomatous polyposis
RS2532140040 ADGRV1 Health Risk Likely pathogenic Febrile seizures, familial
RS2532141155 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532141227 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532141298 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532141698 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532141714 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532151486 SMN1 Health Risk Likely pathogenic Spinal muscular atrophy, Spinal muscular atrophy
RS2532151610 SMN1 Health Risk Pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS2532152556 SMN1 Health Risk Likely pathogenic Spinal muscular atrophy, Spinal muscular atrophy
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