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
RS200067774 HOXD13 Health Risk Conflicting classifications of pathogenicity HOXD13-related disorder, HOXD13-related disorder
RS200068080 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS200068167 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS200068375 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS200068725 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS200068769 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Hyperornithinemia
RS200069261 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS200069356 PRKAR1A Health Risk Conflicting classifications of pathogenicity Acrodysostosis 1 with or without hormone resistance, Hereditary cancer-predisposing syndrome
RS200069592 RYR1 Health Risk Likely pathogenic Malignant hypothermia, RYR1-related disorder
RS200069811 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS200069860 PKP2 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, Cardiovascular phenotype
RS200069949 SLC26A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephrolithiasis susceptibility caused by SLC26A1
RS200070226 RYR2 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Cardiomyopathy
RS200070245 CHAMP1 Health Risk Pathogenic intellectual disability with severe speech impairment, Intellectual disability
RS200070347 ACTG1 Health Risk Conflicting classifications of pathogenicity —
RS200070902 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS200070962 SCN9A Health Risk Pathogenic/Likely pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS200071478 TNFRSF11B Health Risk Pathogenic Hyperphosphatasemia with bone disease, Hyperphosphatasemia with bone disease
RS200071687 GCK Health Risk Pathogenic —
RS200071888 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Inborn genetic diseases
RS200072075 POP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200072284 CELSR1 Health Risk Conflicting classifications of pathogenicity —
RS200072694 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS200072898 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Nonpapillary renal cell carcinoma
RS200072903 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS200073118 MECOM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200073414 WHRN Health Risk Conflicting classifications of pathogenicity —
RS200073614 PIN4;ERCC6L Health Risk Conflicting classifications of pathogenicity —
RS200073714 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS200074362 EYA1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 1, Branchiootic syndrome 1
RS200074383 CDKL5;RS1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Juvenile retinoschisis
RS200074530 ATG7 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 31
RS200074800 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS200074974 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS200075429 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200075594 VARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 20, Adrenocortical carcinoma
RS200075782 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Iron accumulation in brain
RS200075817 RPL5 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 6, Diamond-Blackfan anemia
RS200076125 IL7R Health Risk Likely pathogenic Immunodeficiency 104, Severe combined immunodeficiency disease
RS200076129 SIGMAR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
RS200076785 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS200076893 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS200077558 C8B Health Risk Pathogenic —
RS200078204 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS200078242 SAG Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Oguchi disease
RS200078501 CREB3L3 Health Risk Likely pathogenic —
RS200078639 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS200078912 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200079039 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome
RS200079172 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS200079318 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200079588 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS200079673 IFT81 Health Risk Pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS200079698 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS200079802 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS200079929 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cockayne syndrome type 2
RS200079946 CCDC88C Health Risk Conflicting classifications of pathogenicity CCDC88C-related disorder, CCDC88C-related disorder
RS200080112 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS200080181 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS200080353 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200080591 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS200081016 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200081065 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200081251 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Lung cancer
RS200081517 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200081580 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS200082059 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS200082225 USH1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200083040 CEP250 Health Risk Conflicting classifications of pathogenicity Monogenic hearing loss, Cone-rod dystrophy and hearing loss 2
RS200083101 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS200083635 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS200083690 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS200083855 P3H2 Health Risk Pathogenic Rare isolated myopia, Rare isolated myopia
RS200083866 BMPR1B Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 3, Type A2 brachydactyly
RS200083914 COG4 Health Risk Conflicting classifications of pathogenicity COG4-congenital disorder of glycosylation, COG4-congenital disorder of glycosylation
RS200084360 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS200084780 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital heart disease
RS200085642 CAST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200085753 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS200085883 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS200086055 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS200086262 ITPA Health Risk Pathogenic Developmental and epileptic encephalopathy, 35
RS200086842 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS200086992 MICALL2 Health Risk Conflicting classifications of pathogenicity —
RS200087122 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Inborn genetic diseases
RS200088016 CBX2 Health Risk Conflicting classifications of pathogenicity —
RS200088099 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS200088180 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS200088200 PNPT1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS200088236 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS200088320 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS200088377 IL17RD Health Risk Conflicting classifications of pathogenicity Delayed puberty, Cerebral arteriovenous malformation
RS200088838 OPTN Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS200088963 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200089121 ORC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 3, Inborn genetic diseases
RS200089274 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200089323 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200089324 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS200089542 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1, Chronic infantile neurological
RS200089599 SCNN1B Health Risk Conflicting classifications of pathogenicity —
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