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
RS2125483574 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125483920 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125483925 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125484301 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125484499 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125485040 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125485135 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125485191 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS2125485227 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125485368 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2125485441 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125485467 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125485574 NGLY1 Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2125486425 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2125488757 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS2125488868 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125489019 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125489182 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125489334 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125489641 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125498956 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125499116 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125499361 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS2125499421 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125499463 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125499552 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125499764 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125500010 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2125500127 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125500141 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125500187 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125500230 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125500236 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2125500407 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125500431 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125500491 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125500515 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2125500524 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125500625 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125500629 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2125500799 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125501295 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125501418 BRPF1 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125502078 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2125503212 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125503248 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2125504069 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2125504232 BRPF1 Health Risk Pathogenic —
RS2125504267 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125504669 BTD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BTD-related disorder
RS2125506218 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125506442 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2125506459 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125507908 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125507991 BRPF1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2125508404 BRPF1 Health Risk Pathogenic See cases, See cases
RS2125509502 BRPF1 Health Risk Likely pathogenic —
RS2125511510 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125511527 BRPF1 Health Risk Likely pathogenic —
RS2125511640 BRPF1 Health Risk Likely pathogenic —
RS2125513364 BRPF1 Health Risk Pathogenic —
RS2125513549 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2125513602 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125514028 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125514041 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125514693 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125515297 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2125523018 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS2125533127 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2125533195 GLB1 Health Risk Pathogenic/Likely pathogenic Infantile GM1 gangliosidosis, Mucopolysaccharidosis
RS2125534701 NDUFB3 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 25
RS2125534778 NDUFB3 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 25
RS2125543580 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2125543662 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125547910 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2125548643 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2125548832 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS2125548844 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2125548861 GLB1 Health Risk Pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS2125548864 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS2125574108 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125574236 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2125575723 KIF1A Health Risk Pathogenic —
RS2125577893 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125578212 SETD5 Health Risk Pathogenic —
RS2125578591 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125578633 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125578710 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125578753 SLC25A38 Health Risk Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125578920 SETD5 Health Risk Pathogenic —
RS2125579037 SETD5 Health Risk Pathogenic —
RS2125579512 SETD5 Health Risk Pathogenic —
RS2125579714 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125579746 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125579866 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125579946 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580030 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580378 SLC25A38 Health Risk Pathogenic —
RS2125580393 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2125580560 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
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