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
RS376956433 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS376956484 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS376958386 ABCC6 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS376958885 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS376959147 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS376959812 PFKFB1 Health Risk Conflicting classifications of pathogenicity —
RS376960143 ABCA12 Health Risk Likely pathogenic —
RS376960358 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS376962634 TPRN Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS376963628 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS376963969 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376964010 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS376964045 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS376965972 DPYS Health Risk Likely pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS376967214 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS376967382 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376968326 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS376968555 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS376969021 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia
RS376970816 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Myoclonic epilepsy
RS376971129 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS376971794 TFG Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy, Okinawa type
RS376973640 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS376973987 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS376974221 NPHP1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 1
RS376974525 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS376974746 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS376974936 WFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cataract 41
RS376975956 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, BMP1-related disorder
RS376975967 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS376977065 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS376978176 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS376978572 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS376979408 LTBP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376980859 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS376981545 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS376981637 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS376982377 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
RS376982715 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS376983109 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS376983373 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS376983577 USH2A Health Risk Pathogenic Inborn genetic diseases, Retinal dystrophy
RS376984481 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS376984823 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS376987651 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS376989302 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS376990082 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS376990143 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS376991991 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS376993881 MAT1A Health Risk Pathogenic/Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS376993977 UQCC2 Health Risk Conflicting classifications of pathogenicity —
RS376994468 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, CHAT-related disorder
RS376994481 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 11, Retinitis pigmentosa
RS376995740 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS376997378 ASXL3 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS376997494 UBA5 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS376999117 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS376999476 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Hereditary spherocytosis type 4
RS376999911 POLR1A Health Risk Conflicting classifications of pathogenicity —
RS377000174 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377000488 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS377000937 PHF21A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377001239 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS377001615 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS377001681 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS377001714 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS377002313 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS377003650 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Hematuria
RS377006678 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1
RS377007687 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS377008480 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS377010944 FUS Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS377011269 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS377012729 CEP78 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377013141 PRDM13 Health Risk Conflicting classifications of pathogenicity —
RS377013246 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, DYNC1H1-related disorder
RS377014092 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Inborn genetic diseases
RS377014444 SKIC2 Health Risk Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS377015233 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cardiovascular phenotype
RS377015274 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS377015571 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377015931 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS377016169 LSS Health Risk Pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS377016580 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377016856 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS377017180 POR Health Risk Likely pathogenic POR-related disorder, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS377021700 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS377022708 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency
RS377023302 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Tibial muscular dystrophy
RS377023736 SF3B1 Health Risk Likely pathogenic Myelodysplastic syndrome progressed to acute myeloid leukemia, Myelodysplastic syndrome
RS377023815 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DEAF1-related disorder
RS377024163 DDHD2 Health Risk Likely pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS377024297 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS377024801 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
RS377024903 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS377025174 BCS1L Health Risk Pathogenic/Likely pathogenic Mitochondrial complex III deficiency nuclear type 1, Inborn genetic diseases
RS377025450 COX6B1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 7
RS377025499 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS377025920 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS377026986 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
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