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
RS745949029 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS745949756 PDHX Health Risk Conflicting classifications of pathogenicity —
RS745949846 KIAA0586 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS745951028 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS745953523 RRAGC Health Risk Pathogenic Long-Olsen-Distelmaier syndrome, Long-Olsen-Distelmaier syndrome
RS745954026 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS745954112 TRAF3IP1 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 9, Senior-Loken syndrome 9
RS745954217 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS745954644 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS745955360 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS745955443 GCKR Health Risk Conflicting classifications of pathogenicity —
RS745955620 PLCZ1 Health Risk Likely pathogenic Spermatogenic failure 17, Spermatogenic failure 17
RS745956910 COL11A1 Health Risk Pathogenic —
RS745957152 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS745958462 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS745959970 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS745960214 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DYNC1H1-related disorder
RS745960407 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS745960603 KCTD7 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS745961446 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745961541 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS745961740 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS745962568 USH2A Health Risk Conflicting classifications of pathogenicity —
RS745962752 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS745964986 IGSF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745966593 NSUN2 Health Risk Conflicting classifications of pathogenicity —
RS745967703 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS745967881 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Piebaldism
RS745968243 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 13
RS745968470 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Inborn genetic diseases
RS745968949 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 44
RS745970130 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS745970212 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia 1
RS745972631 ABCB4 Health Risk Likely pathogenic ABCB4-related disorder, ABCB4-related disorder
RS74597325 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS745973990 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS745973997 VLDLR Health Risk Pathogenic —
RS745975162 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745976640 POLE Health Risk Conflicting classifications of pathogenicity —
RS745976989 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS745977062 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745977589 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS745979475 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS745979763 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS745980045 MTIF2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS745980143 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS745980273 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS74598136 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS745981754 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS745983207 PMVK Health Risk Pathogenic Porokeratosis 1, Mibelli type
RS745986631 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745986665 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS745987406 CUBN Health Risk Pathogenic CUBN-related disorder, CUBN-related disorder
RS745988643 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with movement abnormalities, abnormal gait
RS745988877 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS745989557 SDHAF2 Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Glioma susceptibility 1
RS745989871 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS745990956 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS745991254 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS745992545 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS745993033 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745993071 PGM1 Health Risk Pathogenic/Likely pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS745993158 CCDC40 Health Risk Pathogenic Kartagener syndrome, Primary ciliary dyskinesia
RS745994390 DLL4 Health Risk Likely pathogenic —
RS745994833 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS745995567 TECTA Health Risk Conflicting classifications of pathogenicity —
RS745996278 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS745996955 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS745997744 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS745997770 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS745997916 MED23 Health Risk Pathogenic Intellectual disability, autosomal recessive 18
RS745997977 SMPX Health Risk Pathogenic —
RS745998179 COL17A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745998356 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS745999464 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS745999472 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746000327 PNLIP Health Risk Pathogenic Pancreatic triacylglycerol lipase deficiency, Pancreatic triacylglycerol lipase deficiency
RS746000400 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS746001525 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Differences in sex development
RS746001808 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS746003280 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS746004086 ADGRV1 Health Risk Pathogenic —
RS746006696 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS746006737 SRCAP Health Risk Conflicting classifications of pathogenicity SRCAP-related disorder, Inborn genetic diseases
RS746007396 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS746008257 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS746009199 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746011550 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DDX41-related disorder
RS746012569 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS746013208 CTSF Health Risk Likely pathogenic —
RS746013650 ASPM Health Risk Pathogenic —
RS746014324 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746016938 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS746017736 CASK Health Risk Pathogenic —
RS746017823 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS746018833 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746019074 ALG1 Health Risk Pathogenic/Likely pathogenic ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation
RS746019378 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 22
RS746019545 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS746019841 GBA1 Health Risk Likely pathogenic Gaucher disease type I, Gaucher disease
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