SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS934415028 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS934428561 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
RS934444258 MCM7 Health Risk Pathogenic 9 conditions, 9 conditions
RS934488030 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS934496989 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS934523851 IL2RB Health Risk Pathogenic Immunodeficiency 63 with lymphoproliferation and autoimmunity, Immunodeficiency 63 with lymphoproliferation and autoimmunity
RS934534826 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS934556455 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS934613592 SLC12A6 Health Risk Pathogenic —
RS934652609 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS934668242 FGA Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, FGA-related disorder
RS934685879 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS934714603 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS934739524 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS934763013 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1O
RS934768094 RPL13 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
RS934797393 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS934815328 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS934837854 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS934841210 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS934865815 ACAD8 Health Risk Likely pathogenic ACAD8-related disorder, ACAD8-related disorder
RS934869420 SPAG1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS934897228 PIEZO1 Health Risk Pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS934909698 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome 12
RS934913626 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS934955715 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS934971470 CAV3 Health Risk Conflicting classifications of pathogenicity Caveolinopathy, Caveolinopathy
RS934976363 PDE6B Health Risk Likely pathogenic —
RS935002190 FH Health Risk Likely pathogenic —
RS935003657 MAK Health Risk Pathogenic/Likely pathogenic —
RS935008073 AARS2 Health Risk Pathogenic —
RS935089030 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS935091512 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS935096656 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS935108422 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS935119099 SLC12A6 Health Risk Pathogenic —
RS935130451 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS935132421 LMNB1 Health Risk Pathogenic Microcephaly 26, primary
RS935159456 ADAMTS18 Health Risk Pathogenic/Likely pathogenic ADAMTS18-related disorder, ADAMTS18-related disorder
RS935161396 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS935176131 USH2A Health Risk Pathogenic —
RS935249167 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS935301743 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia
RS935421961 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS935426164 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS935431600 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS935436918 DUOX2 Health Risk Pathogenic/Likely pathogenic DUOX2-related disorder, Thyroid dyshormonogenesis 6
RS935464108 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS935487877 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS935526225 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS935553427 GABRB2 Health Risk Likely pathogenic —
RS935571611 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS935602068 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS935629850 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS935642453 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS935669552 MPIG6B Health Risk Pathogenic Thrombocytopenia, anemia
RS935685902 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS935725316 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS935728437 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS935736801 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 10, LZTR1-related schwannomatosis
RS935809232 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS935836462 PCK1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS935855792 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS935867046 CSRP3 Health Risk Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1M
RS935876011 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS935920468 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS935928788 ORC1 Health Risk Likely pathogenic —
RS935936614 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS935956958 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS935962174 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS935979786 EXOSC9 Health Risk Pathogenic —
RS935982815 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS936059863 RMRP Health Risk Likely pathogenic Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia
RS936088423 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS936140196 NRL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS936157944 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS936175997 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Inborn genetic diseases
RS936183003 EDNRB Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS936188645 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS936192871 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS936193061 SGCB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS936203749 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS936204422 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS936213383 DNAJB2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS936266747 DOCK6 Health Risk Likely pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS936296358 TUBGCP6 Health Risk Pathogenic —
RS936338537 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS936466427 ALOX12B Health Risk Conflicting classifications of pathogenicity —
RS936479651 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5
RS936481046 WAC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS936484229 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS936493226 JAK3 Health Risk Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS936520999 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS936561410 TMPRSS9 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS936563831 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS936567127 MYO15A Health Risk Pathogenic —
RS936592713 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS936626275 IBA57 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS936639741 SLC25A22 Health Risk Pathogenic Developmental and epileptic encephalopathy, 3
RS936641955 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
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