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
RS148135406 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS148136213 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS148136365 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1481363942 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS148136545 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A
RS148137322 INSR Health Risk Conflicting classifications of pathogenicity —
RS1481374757 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS148138374 STK4 Health Risk Pathogenic Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS148139633 FGD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1481396407 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disorder
RS148139814 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia 3, DNAH5-related disorder
RS148140756 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1481415391 COL7A1 Health Risk Pathogenic —
RS1481415459 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS1481417187 GJB2 Health Risk Likely pathogenic —
RS148141905 LSS Health Risk Likely pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS1481421967 NHS Health Risk Pathogenic X-linked syndromic intellectual disability, Nance-Horan syndrome
RS148142216 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, LCT-related disorder
RS148143226 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS1481434540 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS148144773 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS1481450955 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1481453913 COL2A1 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS1481460597 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS148146480 COL5A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS148147002 TTN Health Risk Conflicting classifications of pathogenicity —
RS1481471124 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS148147581 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Lethal acantholytic epidermolysis bullosa
RS148148052 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS148148252 DCHS1 Health Risk Conflicting classifications of pathogenicity Mitral valve prolapse, myxomatous 2
RS148148357 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase complex deficiency
RS148148529 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148150585 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness
RS148151840 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Inborn genetic diseases
RS1481521421 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS1481524583 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS148153079 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, USH2A-related disorder
RS1481539409 ASNS Health Risk Pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS148154047 WNT1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS1481540503 SLC12A6 Health Risk Pathogenic —
RS148155075 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS1481553944 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS148155691 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1481559911 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1481562268 BRAF Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 1, RASopathy
RS148156245 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS1481564133 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS148156477 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS148158093 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS1481582794 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 8 conditions
RS148158774 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS148159031 DOCK3 Health Risk Conflicting classifications of pathogenicity —
RS148159407 BUB1B Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Premature chromatid separation trait
RS148160011 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS148161063 ZMYND15 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS1481616548 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS148161858 HFE Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 1
RS148162562 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Optic atrophy
RS1481644631 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS148164929 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1481657641 DLX5 Health Risk Pathogenic —
RS1481659687 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS148166625 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS148167168 TONSL Health Risk Conflicting classifications of pathogenicity TONSL-related disorder, Inborn genetic diseases
RS148167725 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS148168280 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS148168366 GLIS3 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Neonatal diabetes mellitus with congenital hypothyroidism
RS148169214 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS148170067 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hemolytic anemia
RS1481703137 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS148170326 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Inborn genetic diseases
RS148170370 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS148170480 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS148170776 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS148171062 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS1481733213 ATR Health Risk Likely pathogenic Seckel syndrome 1, Seckel syndrome 1
RS148173878 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS148173992 CLCNKB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bartter disease type 3
RS148174226 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS148174338 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1481745974 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS148175242 WIPF1 Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2
RS148175458 SLC33A1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS148175483 CFHR2 Health Risk Conflicting classifications of pathogenicity —
RS148175530 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS148175795 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS1481760544 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS1481765326 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS148176695 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS148176750 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1481783985 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1481785592 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS148178922 PPM1F Health Risk Conflicting classifications of pathogenicity —
RS148178994 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS148179279 NHP2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS148179522 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS1481802456 CRX Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS148181729 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1481819938 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS148182302 IFNA10 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
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