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
RS779407815 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS779407868 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS779408186 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS779408742 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS779409629 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS779409818 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS779411534 GNAO1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS779411998 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779412317 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS779412613 STAR Health Risk Likely pathogenic —
RS779413196 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS779413228 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS779413548 TMEM240 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 21, Inborn genetic diseases
RS779413959 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS779414078 PRPH2 Health Risk Pathogenic Retinal dystrophy, Patterned dystrophy of the retinal pigment epithelium
RS779415187 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779415339 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS779415925 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS779418268 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS779418460 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS779422412 ACE Health Risk Pathogenic —
RS779422769 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS779422878 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS779423223 NAGA Health Risk Likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
RS779423998 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS779424764 ADGRV1 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS779425775 CDH23 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS779425782 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS779426136 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS779426744 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS779427012 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS779427628 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS779427901 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS779429646 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS779430817 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS779431365 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Inborn genetic diseases
RS779432560 GLDN Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 11, Lethal congenital contracture syndrome 11
RS779434083 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS779434583 NRXN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779434645 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS779434941 TPO Health Risk Pathogenic —
RS779435800 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS779436531 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS779436749 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, BBS7-related disorder
RS779437509 CC2D2A Health Risk Pathogenic —
RS779438003 KNSTRN Health Risk Pathogenic Combined immunodeficiency with faciooculoskeletal anomalies, Combined immunodeficiency with faciooculoskeletal anomalies
RS779438420 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS779439298 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS779440022 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS779440632 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS779441016 RGS9 Health Risk Pathogenic —
RS779441513 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS779442763 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS779443466 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS779444948 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS779445148 SHOC1 Health Risk Pathogenic Spermatogenic failure 75, Spermatogenic failure 75
RS779445819 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS779447016 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS779447025 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS779447213 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS779447329 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Inborn genetic diseases
RS779447463 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS779449573 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS779449710 WDR4 Health Risk Likely pathogenic Galloway-Mowat syndrome 6, Galloway-Mowat syndrome
RS779450110 EIF2AK2 Health Risk Conflicting classifications of pathogenicity —
RS779450345 INPP5E Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Joubert syndrome
RS779453109 HNRNPU Health Risk Pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS779453450 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS779454059 PROM1 Health Risk Pathogenic —
RS779454147 TYR Health Risk Pathogenic —
RS779456035 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS779456916 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS779456928 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS779456932 SNORD118;TMEM107 Health Risk Likely pathogenic Leukoencephalopathy with calcifications and cysts, Meckel syndrome 13
RS779457274 HTRA2 Health Risk Pathogenic/Likely pathogenic —
RS779459487 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS779460257 WDR72 Health Risk Likely pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta hypomaturation type 2A3
RS779460424 GCK Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus 1
RS779461179 OCA2 Health Risk Pathogenic/Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Tyrosinase-positive oculocutaneous albinism
RS779463059 PNPLA7 Health Risk Conflicting classifications of pathogenicity —
RS779463117 ANKRD11 Health Risk Pathogenic —
RS779464128 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS779464218 RDH14 Health Risk Likely pathogenic Intellectual disability, Cerebellar atrophy
RS779464399 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS779464455 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS779465895 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, KRIT1-related disorder
RS779466229 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS779466403 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS779466487 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS779466520 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS779466683 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS779466806 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779466926 RAD18 Health Risk Conflicting classifications of pathogenicity —
RS779467316 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779467403 YARS2 Health Risk Likely pathogenic —
RS779467831 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS779468275 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77946954 NALCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779469907 PROS1 Health Risk Conflicting classifications of pathogenicity Protein S deficiency disease, Thrombophilia due to protein S deficiency
RS779470575 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
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