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
RS121908331 DMGDH Health Risk Likely pathogenic Dimethylglycine dehydrogenase deficiency, Dimethylglycine dehydrogenase deficiency
RS121908332 KCNK9 Health Risk Pathogenic Birk-Barel syndrome, Birk-Barel syndrome
RS121908333 LDB3 Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 4, Cardiomyopathy
RS121908334 LDB3 Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 4, Neuromuscular disease
RS121908335 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS121908338 LDB3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1C, Primary dilated cardiomyopathy
RS121908340 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation
RS121908341 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS121908343 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS121908344 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS121908345 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS121908347 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1
RS121908348 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Hearing loss
RS121908349 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Hearing loss
RS121908350 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Hearing loss
RS121908351 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1
RS121908352 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome
RS121908354 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS121908356 AIP Health Risk Pathogenic Pituitary adenoma predisposition, Somatotroph adenoma
RS121908357 AIP Health Risk Pathogenic Somatotroph adenoma, Somatotroph adenoma
RS121908358 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS121908359 FOXL2 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 3, Blepharophimosis
RS121908360 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS121908361 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS121908362 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS121908363 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS121908364 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS121908365 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS121908366 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS121908367 ATP6V0A4 Health Risk Pathogenic Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS121908368 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis, distal
RS121908369 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS121908370 USH1C Health Risk Pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS121908371 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Inborn genetic diseases
RS121908372 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, MCOLN1-related disorder
RS121908373 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS121908374 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS121908375 OPA1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant optic atrophy classic form, Optic atrophy with or without deafness
RS121908376 OPA1 Health Risk Pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS121908377 FOXP2 Health Risk Pathogenic/Likely pathogenic Childhood apraxia of speech, FOXP2-related disorder
RS121908378 FOXP2 Health Risk Pathogenic Childhood apraxia of speech, Inborn genetic diseases
RS121908379 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS121908380 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS121908381 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS121908383 MUTYH Health Risk Pathogenic Gastric cancer, Gastric cancer
RS121908384 TBCE Health Risk Pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS121908385 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS121908386 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS121908387 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS121908388 CYLD Health Risk Pathogenic Familial cylindromatosis, Brooke-Spiegler syndrome
RS121908389 CYLD Health Risk Pathogenic Familial multiple trichoepitheliomata, Brooke-Spiegler syndrome
RS121908390 CYLD Health Risk Pathogenic/Likely pathogenic Brooke-Spiegler syndrome, Familial cylindromatosis
RS121908391 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS121908402 TREM2 Health Risk Pathogenic/Likely pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS121908403 SPINT2 Health Risk Pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS121908404 SPINT2 Health Risk Pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS121908405 ANKH Health Risk Pathogenic Craniometaphyseal dysplasia, autosomal dominant
RS121908406 ANKH Health Risk Pathogenic/Likely pathogenic Craniometaphyseal dysplasia, autosomal dominant
RS121908407 ANKH Health Risk Pathogenic Chondrocalcinosis 2, Chondrocalcinosis 2
RS121908408 ANKH Health Risk Pathogenic CHONDROCALCINOSIS 2, SPORADIC
RS121908409 ANKH Health Risk Likely pathogenic Chondrocalcinosis 2, Chondrocalcinosis 2
RS121908410 ANKH Health Risk Conflicting classifications of pathogenicity Chondrocalcinosis 2, ANKH-related disorder
RS121908411 HCN4 Health Risk Pathogenic/Likely pathogenic Sick sinus syndrome 2, autosomal dominant
RS121908415 ACTN4 Health Risk Pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS121908416 ACTN4 Health Risk Pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS121908417 ACTN4 Health Risk Pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS121908419 ACAD8 Health Risk Pathogenic/Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS121908420 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS121908421 ACAD8 Health Risk Pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS121908422 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS121908423 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS121908424 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS121908425 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Short-rib thoracic dysplasia 6 with or without polydactyly
RS121908426 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS121908427 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, See cases
RS121908428 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, SLC12A6-related disorder
RS121908429 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS121908430 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS121908431 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS121908432 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, TRPS1-related disorder
RS121908433 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS121908434 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS121908435 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal syndrome, type III
RS121908436 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS121908440 GPC6 Health Risk Pathogenic Autosomal recessive omodysplasia, Autosomal recessive omodysplasia
RS121908441 KCNE3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 6, Brugada syndrome
RS121908443 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-related disorder
RS121908444 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS121908445 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS121908446 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS121908447 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS121908448 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS121908449 RGS9 Health Risk Pathogenic Bradyopsia, Leber congenital amaurosis
RS121908450 EDAR Health Risk Pathogenic/Likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS121908452 EDAR Health Risk Pathogenic Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type
RS121908453 EDAR Health Risk Pathogenic/Likely pathogenic Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type
RS121908454 EDAR Health Risk Likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS121908455 EDAR Health Risk Pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS121908456 EDAR Health Risk Pathogenic Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type
RS121908457 MYOT Health Risk Pathogenic/Likely pathogenic Progressive distal muscle weakness, Progressive proximal muscle weakness
« Prev 1 ... 253 254 255 256 257 258 259 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →