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
RS74315359 PINK1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS74315360 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS74315361 PINK1 Health Risk risk factor Parkinson disease 6, Parkinson disease 6
RS74315362 PKLR Health Risk Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS74315364 RNASEL Health Risk Conflicting classifications of pathogenicity Prostate cancer, hereditary
RS74315365 RNASEL Health Risk Pathogenic Prostate cancer, hereditary
RS74315366 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Hereditary pheochromocytoma and paraganglioma
RS74315367 SDHB Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Hereditary pheochromocytoma and paraganglioma
RS74315368 SDHB Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS74315369 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Hereditary cancer-predisposing syndrome
RS74315370 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS74315371 SDHB Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Hereditary cancer-predisposing syndrome
RS74315372 SDHB Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Hereditary cancer-predisposing syndrome
RS74315373 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS74315374 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS74315375 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS74315376 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS74315377 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS74315378 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS74315379 TNNT2 Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1D, Primary dilated cardiomyopathy
RS74315380 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Primary dilated cardiomyopathy
RS74315383 AVP Health Risk Pathogenic Neurohypophyseal diabetes insipidus, Neurohypophyseal diabetes insipidus
RS74315384 EDN3 Health Risk Pathogenic Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
RS74315385 EDN3 Health Risk Pathogenic Waardenburg syndrome type 4B, Waardenburg syndrome type 4B
RS74315386 GDF5 Health Risk Pathogenic/Likely pathogenic Brachydactyly type C, Multiple synostoses syndrome 2
RS74315387 GDF5 Health Risk Likely pathogenic Grebe syndrome, Brachydactyly type A1C
RS74315388 GDF5 Health Risk Pathogenic Symphalangism, proximal
RS74315389 GDF5 Health Risk Pathogenic Symphalangism, proximal
RS74315390 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS74315391 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS74315392 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS74315393 MC3R Health Risk risk factor OBESITY (BMIQ9), SUSCEPTIBILITY TO
RS74315394 MKKS Health Risk Conflicting classifications of pathogenicity McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS74315396 MKKS Health Risk Pathogenic/Likely pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6
RS74315397 MKKS Health Risk Pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
RS74315398 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 6, Inborn genetic diseases
RS74315399 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
RS74315401 PRNP Health Risk Pathogenic Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1
RS74315402 PRNP Health Risk Pathogenic Gerstmann-Straussler-Scheinker syndrome, Inborn genetic diseases
RS74315403 PRNP Health Risk Pathogenic/Likely pathogenic Fatal familial insomnia, Huntington disease-like 1
RS74315405 PRNP Health Risk Pathogenic Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1
RS74315406 PRNP Health Risk Likely pathogenic Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1
RS74315407 PRNP Health Risk Pathogenic/Likely pathogenic/Pathogenic, low penetrance Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1
RS74315408 PRNP Health Risk Conflicting classifications of pathogenicity Inherited Creutzfeldt-Jakob disease, Inherited prion disease
RS74315410 PRNP Health Risk Likely pathogenic Gerstmann-Straussler-Scheinker syndrome, Huntington disease-like 1
RS74315411 PRNP Health Risk Pathogenic Spongiform encephalopathy with neuropsychiatric features, Huntington disease-like 1
RS74315412 PRNP Health Risk Pathogenic/Likely pathogenic Inherited Creutzfeldt-Jakob disease, Huntington disease-like 1
RS74315413 PRNP Health Risk Pathogenic Gerstmann-Straussler-Scheinker syndrome, Spongiform encephalopathy with neuropsychiatric features
RS74315414 PRNP Health Risk Pathogenic Spongiform encephalopathy with neuropsychiatric features, Spongiform encephalopathy with neuropsychiatric features
RS74315415 PRNP Health Risk Pathogenic Gerstmann-Straussler-Scheinker syndrome, Gerstmann-Straussler-Scheinker syndrome
RS74315416 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Infertility disorder
RS74315417 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS74315418 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Amenorrhea
RS74315419 PROKR2 Health Risk Pathogenic Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS74315420 RSPO4 Health Risk Pathogenic Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
RS74315421 RSPO4 Health Risk Pathogenic Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
RS74315422 RSPO4 Health Risk Pathogenic Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
RS74315423 RSPO4 Health Risk Pathogenic Nonsyndromic congenital nail disorder 4, Nonsyndromic congenital nail disorder 4
RS74315424 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS74315425 SALL4 Health Risk Pathogenic/Likely pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS74315426 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS74315427 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS74315428 SALL4 Health Risk Likely pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS74315429 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS74315430 SOX18 Health Risk Likely pathogenic Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
RS74315431 VAPB Health Risk Pathogenic Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
RS74315433 VSX1 Health Risk Conflicting classifications of pathogenicity Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy
RS74315437 CLDN14 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 29, Hearing impairment
RS74315438 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS74315439 CRYAA Health Risk Pathogenic Cataract 9 multiple types, Inborn genetic diseases
RS74315440 CRYAA Health Risk Likely pathogenic Cataract 9, autosomal recessive
RS74315441 CRYAA Health Risk Conflicting classifications of pathogenicity Cataract 9 multiple types, Congenital portosystemic shunt
RS74315442 CSTB Health Risk Pathogenic Unverricht-Lundborg syndrome, 8 conditions
RS74315443 CSTB Health Risk Likely pathogenic Unverricht-Lundborg syndrome, Unverricht-Lundborg syndrome
RS74315444 IFNGR2 Health Risk Pathogenic Immunodeficiency 28, Immunodeficiency 28
RS74315445 KCNE1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 2, Jervell and Lange-Nielsen syndrome 1
RS74315446 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 5, Congenital long QT syndrome
RS74315447 KCNE2 Health Risk Conflicting classifications of pathogenicity; risk factor Long QT syndrome 6, Congenital long QT syndrome
RS74315448 KCNE2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 6, Cardiovascular phenotype
RS74315449 KCNE2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS74315450 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS74315451 RUNX1 Health Risk Pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS74315452 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS74315455 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, adult type
RS74315456 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, late infantile form
RS74315457 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, juvenile type
RS74315458 ARSA Health Risk Likely pathogenic METACHROMATIC LEUKODYSTROPHY, LATE-ONSET
RS74315459 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, late infantile form
RS74315460 ARSA Health Risk Pathogenic METACHROMATIC LEUKODYSTROPHY, SEVERE
RS74315461 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Inborn genetic diseases
RS74315462 ARSA Health Risk Pathogenic/Likely pathogenic METACHROMATIC LEUKODYSTROPHY, SEVERE
RS74315463 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS74315464 ARSA Health Risk Conflicting classifications of pathogenicity ARYLSULFATASE A PSEUDODEFICIENCY, Metachromatic leukodystrophy
RS74315466 ARSA Health Risk Conflicting classifications of pathogenicity ARYLSULFATASE A PSEUDODEFICIENCY, Metachromatic leukodystrophy
RS74315467 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS74315468 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS74315470 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, juvenile type
RS74315471 ARSA Health Risk Pathogenic/Likely pathogenic METACHROMATIC LEUKODYSTROPHY, SEVERE
RS74315472 ARSA Health Risk Likely pathogenic METACHROMATIC LEUKODYSTROPHY, SEVERE
RS74315473 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Spastic ataxia
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