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
RS768161152 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS768161313 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS768161861 LMF1 Health Risk Pathogenic/Likely pathogenic Lipase deficiency, combined
RS768164831 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS768164989 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS768165720 HESX1 Health Risk Conflicting classifications of pathogenicity Septo-optic dysplasia sequence, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
RS768165881 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS768167170 COQ6 Health Risk Pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS768167259 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
RS768168259 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS768169514 FRRS1L Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 37
RS768169562 NEK10 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS768169574 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768169831 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, X-linked cone-rod dystrophy 1
RS768170625 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS768170991 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS768171054 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS768171831 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta with normal sclerae, dominant form
RS768172525 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS768173115 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS768174089 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS768174999 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768176054 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS768176676 MMAB Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
RS768178231 SEMA4A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS768178406 NRL Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS768178649 AFG3L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768180196 DEGS1 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS768180953 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS768181059 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS768181815 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS768182640 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS768183148 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS768183391 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS768184220 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS768184879 FGF10 Health Risk Pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS768185604 ADCY10 Health Risk Pathogenic —
RS768188064 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS768188445 TGFB3 Health Risk Conflicting classifications of pathogenicity Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS768188490 RTEL1 Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS768188836 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS768188910 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS768189353 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS768190736 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS768192083 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS768192190 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS768194552 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS768197900 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS768198017 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS768198327 PIGL Health Risk Likely pathogenic CHIME syndrome, CHIME syndrome
RS768198537 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS768200772 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS768200802 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768201036 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2C
RS768201739 SPP2 Health Risk Conflicting classifications of pathogenicity —
RS768201846 ZXDB Health Risk Conflicting classifications of pathogenicity —
RS768201976 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768202310 COL7A1 Health Risk Pathogenic —
RS768202610 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS768204447 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS768204663 RPIA Health Risk Likely pathogenic —
RS768205792 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS768206358 ABCA4 Health Risk Pathogenic —
RS768207230 SDCCAG8 Health Risk Pathogenic Inborn genetic diseases, Senior-Loken syndrome 7
RS768207589 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS768207964 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS768208443 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, EGFR-related disorder
RS768208563 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS768209419 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS768210021 DUOX2 Health Risk Pathogenic —
RS768210143 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS768210562 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 4
RS768210838 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS768211521 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Inborn genetic diseases
RS768211557 PNPO Health Risk Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS768211726 TTN Health Risk Conflicting classifications of pathogenicity —
RS768215008 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia type I
RS768215450 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS76821562 SFTPC Health Risk Conflicting classifications of pathogenicity —
RS768215650 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS768215813 SKIC3 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS768216151 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, GM3 synthase deficiency
RS768218725 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS768219294 IMPG1 Health Risk Pathogenic —
RS768219929 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases
RS768221184 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS768221380 MED12L Health Risk Conflicting classifications of pathogenicity MED12L-related disorder, Inborn genetic diseases
RS768222032 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS768222183 POLR3A Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS768222428 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS768222784 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Factor X deficiency
RS768222969 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS768223828 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS768223928 GRN Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS768224127 CEP152 Health Risk Likely pathogenic —
RS76822427 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS768224857 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS768225657 DNAH14 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS768225923 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS768226435 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, CFTR-related disorder
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