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
RS2531795490 ERCC8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2531795499 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS2531795527 ERCC8 Health Risk Pathogenic —
RS2531795554 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS2531798342 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS2531798348 ERCC8 Health Risk Likely pathogenic —
RS2531798461 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, Cockayne syndrome type 1
RS2531802219 ERCC8 Health Risk Pathogenic/Likely pathogenic UV-sensitive syndrome 2, Cockayne syndrome type 1
RS2531802244 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS2531802402 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS2531803201 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2531805137 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531807956 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531825719 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS2531826011 NR3C2 Health Risk Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS2531829170 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS2531829191 ERCC8 Health Risk Pathogenic —
RS2531832380 ADGRV1 Health Risk Pathogenic —
RS2531835861 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS2531839298 ADGRV1 Health Risk Pathogenic —
RS2531839441 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS2531839542 ERCC8 Health Risk Pathogenic —
RS2531840596 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531840868 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531841080 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531841219 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531841267 HSD17B4 Health Risk Pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS2531841327 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531842297 ADGRV1 Health Risk Pathogenic —
RS2531842449 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2531852584 ERCC8 Health Risk Likely pathogenic —
RS2531852602 ERCC8 Health Risk Likely pathogenic —
RS2531857217 ADGRV1 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS2531865376 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS2531868360 ADGRV1 Health Risk Pathogenic —
RS2531880879 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2531884877 TAPT1 Health Risk Likely pathogenic —
RS2531892073 NDUFAF2 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2531892396 NDUFAF2 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 10
RS2531899300 ADGRV1 Health Risk Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS2531901971 ADGRV1 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2531902012 ADGRV1 Health Risk Pathogenic —
RS2531903536 ADGRV1 Health Risk Likely pathogenic —
RS2531904772 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531905463 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531911970 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531912062 HSD17B4 Health Risk Likely pathogenic Perrault syndrome 1, Perrault syndrome 1
RS2531912089 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531912467 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531912482 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531912705 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531912732 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531921839 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531922377 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531922658 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531927990 ADGRV1 Health Risk Likely pathogenic —
RS2531935679 ADGRV1 Health Risk Pathogenic —
RS2531935860 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2531936875 ADGRV1 Health Risk Pathogenic —
RS2531938775 ADGRV1 Health Risk Pathogenic —
RS2531938791 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2531939450 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2531939747 ADGRV1 Health Risk Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS2531940231 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2531940831 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2531942525 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531942664 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531952888 CACNA1C Health Risk Pathogenic —
RS2531953881 HSD17B4 Health Risk Pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS2531954780 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531954907 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531979897 ADGRV1 Health Risk Pathogenic —
RS2531981299 ADGRV1 Health Risk Pathogenic —
RS2531982021 ADGRV1 Health Risk Pathogenic —
RS2531982920 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531983477 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531983634 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531983649 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531989713 PDE8B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2531999348 ADGRV1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2531999906 ADGRV1 Health Risk Pathogenic Monogenic hearing loss, Monogenic hearing loss
RS2532001058 ADGRV1 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2532008000 ADGRV1 Health Risk Pathogenic —
RS2532009048 ADGRV1 Health Risk Pathogenic —
RS2532012725 ADGRV1 Health Risk Pathogenic —
RS2532013049 ADGRV1 Health Risk Pathogenic —
RS2532013251 ADGRV1 Health Risk Pathogenic —
RS2532013279 ADGRV1 Health Risk Pathogenic —
RS2532013596 ADGRV1 Health Risk Likely pathogenic —
RS2532025300 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS2532029941 ADGRV1 Health Risk Pathogenic —
RS2532030559 NDUFAF2 Health Risk Likely pathogenic —
RS2532030623 NDUFAF2 Health Risk Pathogenic —
RS2532030738 NDUFAF2 Health Risk Pathogenic —
RS2532030864 ADGRV1 Health Risk Likely pathogenic —
RS2532032921 ADGRV1 Health Risk Pathogenic —
RS2532040581 CAMK4 Health Risk Pathogenic —
RS2532073497 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2532074787 DDX41 Health Risk Pathogenic DDX41-related hematologic malignancy predisposition syndrome, DDX41-related hematologic malignancy predisposition syndrome
RS2532075001 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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