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
RS201620755 NOTCH1 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Adams-Oliver syndrome 5
RS201620814 ATP6AP1 Health Risk Conflicting classifications of pathogenicity ATP6AP1-related disorder, ALG2-congenital disorder of glycosylation
RS201621003 TNRC6B Health Risk Pathogenic —
RS201621131 LIFR Health Risk Likely pathogenic Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS201621132 MYOCD Health Risk Conflicting classifications of pathogenicity —
RS201621696 ZNF674 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, ZNF674-related disorder
RS201621946 GP1BA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2016220601 RBCK1 Health Risk Likely pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS201622087 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS201622517 PDSS2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS201622536 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201622697 KCNN4 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis 2, Inborn genetic diseases
RS201623111 FANCD2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Fanconi anemia
RS201623252 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS201623488 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS201623566 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS201623766 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201623791 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201624086 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS201624827 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS201625049 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS201625116 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201625142 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2016252024 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS201625237 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3, Usher syndrome type 3
RS201625640 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS201625736 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS201625904 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS2016260522 RBCK1 Health Risk Pathogenic/Likely pathogenic See cases, Polyglucosan body myopathy type 1
RS2016261486 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS201626478 CTAGE4 Health Risk Conflicting classifications of pathogenicity —
RS201626532 DCLRE1B Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 8
RS201626646 SLC6A17 Health Risk Conflicting classifications of pathogenicity —
RS201626710 LBR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201626909 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201626968 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201627041 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS201627097 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS201627577 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS201627778 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS201628357 KMT2D Health Risk Conflicting classifications of pathogenicity Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Kabuki syndrome 1
RS201628571 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS201628585 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS201628725 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS201628941 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS201628949 PITX2 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris
RS201628977 DHX37 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201629099 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS201629454 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, SOS2-related disorder
RS201629680 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS201629800 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
RS201629827 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, CSPP1-related disorder
RS201630144 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Inborn genetic diseases
RS201630226 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201630300 FLNB Health Risk Conflicting classifications of pathogenicity —
RS201631086 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder
RS201631269 SCLT1 Health Risk Pathogenic —
RS201631366 TP63 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 8, Ectrodactyly
RS201631664 FAM20C Health Risk Conflicting classifications of pathogenicity Lethal osteosclerotic bone dysplasia, Lethal osteosclerotic bone dysplasia
RS201631950 NKX2-1 Health Risk Conflicting classifications of pathogenicity Benign hereditary chorea, Brain-lung-thyroid syndrome
RS201632009 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS201632198 TMPRSS3 Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8
RS201632257 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS201632358 SMCHD1 Health Risk Pathogenic/Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS201632855 PROK2 Health Risk Likely pathogenic Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS201633028 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS201633321 TTBK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201633414 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201634470 NFU1 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 1, Spastic paraplegia 93
RS201634881 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS201635205 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS201635208 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201635424 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS201635679 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201635835 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201636548 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS201636741 TMEM231 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 20, Meckel syndrome
RS201636760 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS201636905 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS201636911 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS201636991 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS201637035 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2C-related disorder
RS201637203 LRRCC1 Health Risk Conflicting classifications of pathogenicity —
RS201637366 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Cardiovascular phenotype
RS201637508 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS201637565 ERMARD Health Risk Conflicting classifications of pathogenicity —
RS201637627 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
RS201637813 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS201637900 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS201638257 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS201638338 PLEKHG2 Health Risk Conflicting classifications of pathogenicity —
RS201638429 IL11RA Health Risk Conflicting classifications of pathogenicity Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
RS201639044 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Inborn genetic diseases
RS201639979 KCNJ6 Health Risk Conflicting classifications of pathogenicity KCNJ6-related disorder, Inborn genetic diseases
RS201640210 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS201640213 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS201640368 F5 Health Risk Conflicting classifications of pathogenicity Congenital factor V deficiency, Inborn genetic diseases
RS201640757 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS201641425 TRAF7 Health Risk Conflicting classifications of pathogenicity Cardiac, facial
RS201641579 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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