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
RS1563516254 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563518388 PMP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, demyelinating
RS1563518390 PMP2 Health Risk Pathogenic Charcot-Marie-Tooth disease, demyelinating
RS1563525004 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563525210 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563525678 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563526063 NBN Health Risk Pathogenic —
RS1563526747 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563529062 SLC26A5 Health Risk Likely pathogenic —
RS1563530658 NBN Health Risk Pathogenic Breast and/or ovarian cancer, Microcephaly
RS1563532612 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1563538793 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1563539146 NBN Health Risk Likely pathogenic Aplastic anemia, Microcephaly
RS1563541637 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1563548315 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563548624 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1563549036 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563559078 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563559321 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563559596 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1563560018 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563560149 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563560493 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563560495 ZFHX4 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1563560592 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1563560966 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1563561558 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563561741 LPL Health Risk Pathogenic —
RS1563569634 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS1563569983 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563571296 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563571318 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563572716 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS1563573730 EXT1 Health Risk Pathogenic —
RS1563575252 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS1563575291 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS1563575654 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563575697 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563578527 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1563578540 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563578596 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563578727 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563579387 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563580668 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1563580865 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563580963 ASPH Health Risk Pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
RS1563581193 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563581276 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS1563593163 DLC1 Health Risk risk factor Neural tube defect, Neural tube defect
RS1563595095 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563595101 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563595385 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563607193 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563618176 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563621870 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1563623987 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1563625351 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1563626890 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS1563627742 FGFR1 Health Risk Pathogenic —
RS1563627853 WASHC5 Health Risk Likely pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome 1
RS1563630117 EYA1 Health Risk Likely pathogenic Branchiootic syndrome 1, Branchiootorenal syndrome 1
RS1563630128 EYA1 Health Risk Pathogenic —
RS1563630587 EYA1 Health Risk Likely pathogenic —
RS1563631484 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1563633906 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS1563634200 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1563636399 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563637033 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1563638218 TRPS1 Health Risk Pathogenic —
RS1563638577 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1563639759 KMT2C Health Risk Pathogenic KMT2C-related NDD, KMT2C-related NDD
RS1563643394 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563644066 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563644113 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1563644456 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1563644810 THAP1 Health Risk Pathogenic/Likely pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1563645417 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563646198 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1563648905 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563649180 CHD7 Health Risk Pathogenic —
RS1563651698 HSPB1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1563653231 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1563656016 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS1563659325 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563659352 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563659467 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563659474 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563659649 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563659678 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1563659730 CHD7 Health Risk Pathogenic —
RS1563659821 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1563660938 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563661595 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1563662791 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563664199 CHD7 Health Risk Pathogenic —
RS1563664506 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1563665760 YWHAZ Health Risk Pathogenic Popov-Chang syndrome, Popov-Chang syndrome
RS1563669203 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1563669432 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1563670964 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
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