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
RS750457185 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS750457207 F7 Health Risk Pathogenic/Likely pathogenic Factor VII deficiency, Abnormal bleeding
RS750457269 KCND2 Health Risk Pathogenic/Likely pathogenic Early myoclonic encephalopathy, Inborn genetic diseases
RS750457525 SNORD118;TMEM107 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with calcifications and cysts, Meckel-Gruber syndrome
RS750459631 GABRG2 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Febrile seizures
RS750459929 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS750460626 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750460795 KIZ Health Risk Likely pathogenic Lung cancer, Lung cancer
RS750461872 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS750462550 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS750463562 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS750465793 NHLRC1 Health Risk Pathogenic/Likely pathogenic Lafora disease, Myoclonic epilepsy of Lafora 2
RS750466433 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS750467268 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS750468923 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS750470269 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS750470470 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS750470640 EDEM3 Health Risk Pathogenic —
RS750470654 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, G6PC1-related disorder
RS750470900 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS750471097 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Dystonia 27
RS750471995 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS750472100 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS750472969 FGFR3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, 14 conditions
RS750473075 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, IVD-related disorder
RS750473230 CEP104 Health Risk Pathogenic/Likely pathogenic See cases, Joubert syndrome 25
RS750473506 ITPR1 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Spastic ataxia
RS750475050 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Inborn genetic diseases
RS750475071 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS750475467 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS750476171 LRP2 Health Risk Likely pathogenic —
RS750477816 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS750477821 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS750479923 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Lymphatic malformation 6
RS750479975 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75048006 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS750481017 LHCGR Health Risk Pathogenic Pseudohermaphroditism, Pseudohermaphroditism
RS750481489 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS750481560 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750483952 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS750484094 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS750484458 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS750484977 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS750486472 CARD11 Health Risk Pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS750486813 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS750488007 SZT2 Health Risk Pathogenic —
RS750489139 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS750491874 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS750492389 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS750494502 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS750494564 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS750494795 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750495564 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS750496742 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS750496798 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS750501197 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS750501225 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS750501256 PCARE Health Risk Pathogenic —
RS750502323 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS750502331 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS750502935 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750503329 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 6 conditions
RS750503504 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS750504354 RAD21 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS750505963 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS750506474 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Retinal dystrophy
RS750508765 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS750510834 SLC45A2 Health Risk Likely pathogenic —
RS750512029 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS750512162 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS750513275 QDPR Health Risk Likely pathogenic —
RS750513286 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750513716 BMPR1A Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS750513879 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750514687 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS750515166 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS750515748 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS750516202 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS750516275 SLC25A3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
RS750518671 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS750519430 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS750520052 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS750520309 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS750520685 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Metachondromatosis
RS750521452 OTOG Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS750521601 TTC8 Health Risk Likely pathogenic —
RS750521781 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS750524069 CYP4V2 Health Risk Likely pathogenic —
RS750524447 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Abnormality of the nervous system
RS750524549 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS750525727 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, TRPC6-related disorder
RS750526487 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS750526659 IRF3 Health Risk Uncertain significance; risk factor Encephalopathy, acute
RS750526692 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Familial restrictive cardiomyopathy
RS750526802 TRAPPC9 Health Risk Conflicting classifications of pathogenicity —
RS750526845 LMX1B Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Nail-patella syndrome
RS750527536 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS750528020 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS750528093 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS750528095 SKIC2 Health Risk Pathogenic —
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