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
RS774540578 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS774542633 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS774543080 CLN6 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS774543262 RPGR Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Primary ciliary dyskinesia
RS774543782 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774544201 SCO2 Health Risk Conflicting classifications of pathogenicity Myopia 6, Cardioencephalomyopathy
RS774544767 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS774544844 LRTOMT Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS774545380 SMC3 Health Risk Pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS774545390 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS774545616 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS774546117 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS774546369 NLRC4 Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS774547197 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS774547405 AP3D1 Health Risk Conflicting classifications of pathogenicity —
RS774547622 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS774548930 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS774551212 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS774551478 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS774552108 TOR1A Health Risk Likely pathogenic Arthrogryposis multiplex congenita 5, Inborn genetic diseases
RS774552132 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Inborn genetic diseases
RS774553297 PCNT Health Risk Likely pathogenic —
RS774554213 NEUROG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774555485 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS774555559 STAC3 Health Risk Pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS774556391 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Inborn genetic diseases
RS774556838 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774557051 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS774557269 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS774557401 RAD50 Health Risk Conflicting classifications of pathogenicity Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome
RS774558289 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS774558527 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774558627 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS774558672 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS774558993 ATOH7 Health Risk Likely pathogenic Persistent hyperplastic primary vitreous, autosomal recessive
RS774559018 CDH23 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive
RS774559456 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS774560892 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774561483 PIEZO1 Health Risk Pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS774562545 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS774562729 HPDL Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Inborn genetic diseases
RS774562949 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS774563205 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS774563497 PODXL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774565789 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS774566117 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS774567553 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS774568050 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS774568101 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS774568339 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774568740 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS774568856 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Severe combined immunodeficiency disease
RS774571340 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS774572099 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS774573183 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 3, NPHP3-related Meckel-like syndrome
RS774573573 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS774573692 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS774573926 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS774574576 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia
RS774576173 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS774576283 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS774577413 MERTK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa
RS774578030 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS774578979 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS774579560 HK1 Health Risk Conflicting classifications of pathogenicity —
RS774579597 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, ALMS1-related disorder
RS77458039 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS774580628 CDX4 Health Risk Conflicting classifications of pathogenicity —
RS774582273 ABCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774582375 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS774582576 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774582644 ABCA4 Health Risk Likely pathogenic —
RS774583059 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774583071 ZMYND10 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 22
RS774583162 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS774583397 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS774583962 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS774585320 HSPB1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS774586054 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774586107 RAD51C Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS774586263 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 65
RS774586838 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, KIF5A-related disorder
RS774587517 LOXHD1 Health Risk Pathogenic —
RS774588125 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS774588571 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS774589130 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS774589725 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS774590663 CTNNA1 Health Risk Pathogenic —
RS774591307 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS774592467 TCTN3 Health Risk Conflicting classifications of pathogenicity Orofacial-digital syndrome IV, Joubert syndrome 18
RS774592796 AMH Health Risk Pathogenic Persistent mullerian duct syndrome, type I
RS774592932 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS774593393 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS774593602 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS774594040 ALMS1 Health Risk Pathogenic Retinal dystrophy, Alstrom syndrome
RS774594582 CARMIL2 Health Risk Pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS774594728 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774596616 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS774597262 APTX Health Risk Conflicting classifications of pathogenicity —
RS774597492 TRIO Health Risk Conflicting classifications of pathogenicity Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
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