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
RS144496976 EGFR Health Risk Conflicting classifications of pathogenicity Hereditary cancer, EGFR-related lung cancer
RS144497243 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS144498273 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS144498322 DEAF1 Health Risk Conflicting classifications of pathogenicity DEAF1-related disorder, DEAF1-related disorder
RS1444989940 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS144499152 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS144499540 EPB41 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 1, Elliptocytosis 1
RS144499639 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1444997623 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS144499910 MARVELD2 Health Risk Pathogenic —
RS144500145 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, 6 conditions
RS1445010124 OTOF Health Risk Pathogenic —
RS144501019 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1445023836 CYBA Health Risk Likely pathogenic Granulomatous disease, chronic
RS144502445 MGAT4C Health Risk Conflicting classifications of pathogenicity —
RS144502710 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Vitreoretinopathy
RS144505189 KANK1 Health Risk Conflicting classifications of pathogenicity KANK1-related disorder, KANK1-related disorder
RS144505311 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144505769 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH8-related disorder
RS144506470 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS1445075330 NDUFS4 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS144507672 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS144508139 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS144508545 H6PD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1445085747 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1445088475 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS144510531 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, TDRD7-related disorder
RS144510951 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS144511230 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Long QT syndrome 3
RS144511301 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1445117727 SERPINA12 Health Risk Pathogenic Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
RS144512551 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS144513268 NDUFB3 Health Risk Conflicting classifications of pathogenicity —
RS144513453 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS144513458 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS144514259 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1445148501 RAD21 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 4
RS144516266 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS144517772 CLCNKB Health Risk Conflicting classifications of pathogenicity Hematuria, Proteinuria
RS1445182754 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS144518527 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS1445192595 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1445197546 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1445203397 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS144520412 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS144520644 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Optic atrophy
RS144520839 DNAH9 Health Risk Pathogenic —
RS144521346 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS144521359 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS1445215746 SLC4A10 Health Risk Likely pathogenic SLC4A10-related neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
RS144521879 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS144521985 KMT5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT5B-related disorder
RS1445220590 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS144522387 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1445228076 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1445232499 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1445232530 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS144523571 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, Inborn genetic diseases
RS144523953 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS1445239845 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS144524702 SLC9A3 Health Risk Pathogenic/Likely pathogenic Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS144524710 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS144524958 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS144525608 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS144525738 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS1445259508 SLC4A11 Health Risk Pathogenic —
RS144525982 TACC2 Health Risk Conflicting classifications of pathogenicity —
RS144526169 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS144526634 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS144527614 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS1445280218 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1445287184 PTPRQ Health Risk Pathogenic 7 conditions, Autosomal recessive nonsyndromic hearing loss 84A
RS144529043 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS1445290655 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS1445294968 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS144530798 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS1445308792 CFI Health Risk Pathogenic/Likely pathogenic CFI-related disorder, CFI-related disorder
RS144530996 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS144531477 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144532809 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS144533405 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, CHRNA1-related disorder
RS144533539 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS144534912 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS144535256 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1445355190 WFS1 Health Risk Pathogenic Diabetes mellitus, Diabetes mellitus
RS144536197 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1445362077 ATP6V0A4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS144536804 PRORP Health Risk Conflicting classifications of pathogenicity Childhood onset sensorineural hearing impairment, Combined oxidative phosphorylation deficiency 54
RS144537241 ABCC9 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS144538512 RPN2 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1445388214 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS144539278 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS144539316 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS144539572 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS144540534 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS144540943 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS144540956 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS1445411802 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2, Retinitis pigmentosa 39
RS144542429 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS144543144 XPA Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, XPA-related disorder
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