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
RS145716012 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1457166572 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS145717795 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS145718040 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS145718272 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS145718407 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS1457184127 RTEL1 Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS145718830 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stargardt disease
RS1457194859 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS145719998 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Retinal dystrophy
RS145720047 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, EXT1-related disorder
RS145720191 ERCC6 Health Risk Conflicting classifications of pathogenicity ERCC6-related disorder, Clear cell carcinoma of kidney
RS1457205659 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS145720664 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1457208099 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS1457212190 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS145721476 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS145722193 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS145722235 FRMPD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1457224574 NT5C2 Health Risk Likely pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS145722981 EPS8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1457236338 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS1457238867 SPG7 Health Risk Conflicting classifications of pathogenicity SPG7-related disorder, SPG7-related disorder
RS1457242041 GABRA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145724323 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145724410 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS145724674 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS145725101 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS145725245 DCHS1 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 1, Inborn genetic diseases
RS1457258524 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1457261046 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1457263136 CFAP410 Health Risk Pathogenic Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS145726393 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Intellectual disability
RS1457269547 COL4A3 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal dominant Alport syndrome
RS145728297 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS145728860 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS1457292802 ADAMTSL4 Health Risk Pathogenic —
RS145729606 LAMB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1457312523 CFAP65 Health Risk Pathogenic Spermatogenic failure 40, Spermatogenic failure 40
RS145731410 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS145731510 CIT Health Risk Conflicting classifications of pathogenicity Microcephaly 17, primary
RS145731647 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS145731729 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Cone dystrophy 3
RS145732153 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS145732290 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Porokeratosis 3
RS145732429 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS145733062 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS145733370 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS145734191 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS145734640 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS145734811 ESCO2 Health Risk Conflicting classifications of pathogenicity ESCO2-related disorder, Inborn genetic diseases
RS145735112 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS1457354824 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145735492 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS145735762 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, ATP6V1B1-related disorder
RS145735907 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1457362728 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS145736840 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1457373378 ORC1 Health Risk Pathogenic —
RS1457373962 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS145738035 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS145738101 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS145738225 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, GM3 synthase deficiency
RS145738429 FLG Health Risk Pathogenic —
RS1457387893 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS145739451 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS1457395294 WDR81 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145739725 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS145739822 OXR1 Health Risk Conflicting classifications of pathogenicity Congenital cerebellar hypoplasia, OXR1-related disorder
RS145739870 MED14 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS145740135 PLA2G4B;JMJD7-PLA2G4B Health Risk Conflicting classifications of pathogenicity JMJD7-PLA2G4B-related disorder, JMJD7-PLA2G4B-related disorder
RS145740276 NLRP4 Health Risk Conflicting classifications of pathogenicity —
RS145740314 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1457407106 CHRNA1 Health Risk Likely pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS145741156 EMC1 Health Risk Conflicting classifications of pathogenicity —
RS1457411812 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS145741622 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS145741930 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145742052 USH2A Health Risk Pathogenic —
RS145742175 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS1457427060 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS145744799 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1457450946 TAF6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS145745489 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS145745979 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS145746065 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1457464431 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1457466072 SCN1B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 5
RS145747389 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS145747429 CCN6 Health Risk Pathogenic —
RS145747966 GPD2 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1457486459 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS145749221 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1457494794 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS145749836 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS1457500348 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS145750214 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS145750280 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS145750689 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, LRP5-related disorder
RS1457513156 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A
« Prev 1 ... 632 633 634 635 636 637 638 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →