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
RS189130668 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1891315296 C14orf39 Health Risk Pathogenic Spermatogenic failure 52, Non-obstructive azoospermia
RS1891337397 ADSS1 Health Risk Pathogenic —
RS1891340236 YY1 Health Risk Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS1891340555 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1891341077 TTLL5 Health Risk Likely pathogenic —
RS1891344853 GLRX5 Health Risk Pathogenic Sideroblastic anemia 3, Sideroblastic anemia 3
RS1891353130 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891354217 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189135452 TTLL5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1891358172 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891358446 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189137260 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS189138644 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, VPS13A-related disorder
RS1891391133 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891391668 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891397547 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189139917 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Isolated microphthalmia 2
RS1891400285 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891403160 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891405883 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891407915 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891411136 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891411889 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891412150 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189143447 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS1891449262 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS189145014 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1891450501 GABRG3 Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS189145468 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS189145719 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Vici syndrome
RS1891497352 ADSS1 Health Risk Pathogenic Myopathy, distal
RS189150283 LZTR1 Health Risk Likely pathogenic Short stature, LZTR1-related schwannomatosis
RS1891509468 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS189151663 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS189153179 IFT43 Health Risk Conflicting classifications of pathogenicity —
RS1891553550 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891554648 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Pleuropulmonary blastoma
RS1891554979 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189155544 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS189155564 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS1891565957 DICER1 Health Risk Likely pathogenic Euthyroid goiter, DICER1-related tumor predisposition
RS1891579114 SLC12A6 Health Risk Likely pathogenic —
RS1891592805 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS189159450 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS189159946 FGD1 Health Risk Conflicting classifications of pathogenicity FGD1-related disorder, FGD1-related disorder
RS1891601794 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891604387 DICER1 Health Risk Likely pathogenic See cases, DICER1-related tumor predisposition
RS1891606034 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1891610973 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891613678 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891614679 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
RS1891616173 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS189162344 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Short QT syndrome type 2
RS1891639284 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1891640609 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1891644496 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891645525 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891651807 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891660573 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891664027 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891665514 DICER1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Neoplasm
RS1891670149 TTLL5 Health Risk Pathogenic —
RS1891674455 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS189169726 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1891715888 TRIP4 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1
RS189172362 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS1891742510 TRPV4 Health Risk Conflicting classifications of pathogenicity Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C
RS189174414 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1891747424 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS189175047 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Infertility disorder
RS189175284 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS1891763616 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS189176641 SKIC3 Health Risk Conflicting classifications of pathogenicity SKIC3-related disorder, Inborn genetic diseases
RS189181502 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Nonsyndromic genetic hearing loss
RS1891818053 TSHR Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS189183531 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS189183599 EPB41 Health Risk Conflicting classifications of pathogenicity —
RS189185507 TBCD Health Risk Conflicting classifications of pathogenicity Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder
RS189186475 NEK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
RS189186909 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1891900408 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS1891902224 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS189193044 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1891937602 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189193825 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1891939787 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891948958 DICER1 Health Risk Pathogenic Euthyroid goiter, Euthyroid goiter
RS1891953932 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1891980457 CCDC88C Health Risk Pathogenic —
RS189199636 GABRA1 Health Risk Pathogenic/Likely pathogenic Epilepsy, idiopathic generalized
RS189199944 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS189202481 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS1892041902 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1892066954 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS189207240 PAX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1892079951 MYH7 Health Risk Likely pathogenic Myosin storage myopathy, Hypertrophic cardiomyopathy
RS189208539 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS189208584 ATP5F1A Health Risk Conflicting classifications of pathogenicity —
RS189209648 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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