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
RS200758395 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200758704 ASAH1 Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS200758755 MBD4 Health Risk Pathogenic/Likely pathogenic Melanoma, uveal
RS200758776 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200758965 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS200759046 AFG3L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200759464 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS200759521 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Alport syndrome
RS200759730 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS200759807 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS200760091 TTN Health Risk Conflicting classifications of pathogenicity —
RS200760434 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS200760468 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases
RS200760936 MYO15A Health Risk Likely pathogenic —
RS200761047 PREPL Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS200761108 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200761248 ABCD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria
RS200761427 ZBTB20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200761477 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS200761553 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS200761611 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS200761743 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS200762072 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS200762365 NPAT Health Risk Conflicting classifications of pathogenicity —
RS200762586 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS200762675 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS200762860 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS200762972 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS200763228 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200763423 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS200763530 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200763627 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS200763681 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1-related disorder
RS200763732 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS200763765 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS200763834 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS200763913 FLT4 Health Risk Conflicting classifications of pathogenicity —
RS200764011 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS200764366 CC2D2A Health Risk Conflicting classifications of pathogenicity COACH syndrome 1, Joubert syndrome 9
RS200764654 GLDN Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS200764804 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS200764884 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Brugada syndrome 4
RS200765195 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder
RS200765341 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200765847 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, Inborn genetic diseases
RS200765913 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS200766019 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS200766377 CNGA1 Health Risk Pathogenic —
RS200766799 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS200766837 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, Dilated cardiomyopathy 1G
RS200766881 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS200766962 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS200766991 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS200767050 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS200767055 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS200767468 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS200767650 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200767869 SLITRK6 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Inborn genetic diseases
RS200768300 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS200768501 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200768691 RASGRP2 Health Risk Conflicting classifications of pathogenicity —
RS200769097 CCDC88C Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 40, Hydrocephalus
RS200769176 USP11 Health Risk Conflicting classifications of pathogenicity —
RS200769197 TULP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 14
RS200769726 NEK1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Short-rib thoracic dysplasia 6 with or without polydactyly
RS200769761 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS200769983 RNF216 Health Risk Likely pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS200770245 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
RS200770256 VWF Health Risk Pathogenic von Willebrand disease type 2, von Willebrand disease type 3
RS200770447 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS200770604 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS200770631 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200770684 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Hypokalemic periodic paralysis
RS200770933 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS200770952 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS200771189 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200771350 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS200771541 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS200771616 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS200771620 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS200771803 IYD Health Risk Conflicting classifications of pathogenicity —
RS200771970 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Gastric cancer
RS200771983 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200772226 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Inborn genetic diseases
RS200772603 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS200773170 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200773268 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS200773357 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS200773378 KDM1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200773661 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Charcot-Marie-Tooth disease
RS200774224 DIAPH3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant auditory neuropathy 1, Autosomal dominant auditory neuropathy 1
RS200774352 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS200774407 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200774440 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS200775021 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS200775335 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS200775601 TBX19 Health Risk Conflicting classifications of pathogenicity Congenital isolated adrenocorticotropic hormone deficiency, Inborn genetic diseases
RS200775619 PPP1R21 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS200775919 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS200775946 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAAF3-related disorder
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