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
RS745877985 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS745879100 TOP3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745880752 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS745881769 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, ANKS6-related disorder
RS745881796 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS745882136 MED13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dextro-looped transposition of the great arteries
RS745882222 FKRP Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy type B5, Walker-Warburg congenital muscular dystrophy
RS745882980 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS745884435 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS745884647 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS745884793 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS745885469 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745886248 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion
RS745888157 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Inborn genetic diseases
RS745889694 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS745889927 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS745890227 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS745891180 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy
RS745891354 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745891404 TDRD12 Health Risk Likely pathogenic Male infertility, Male infertility
RS745891632 MESD Health Risk Likely pathogenic Osteogenesis imperfecta, type 20
RS745891727 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, See cases
RS74589174 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, OBSL1-related disorder
RS745891819 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS745892286 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C
RS745893292 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS745893364 DNA2 Health Risk Conflicting classifications of pathogenicity —
RS74589348 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS745894763 ALG8 Health Risk Pathogenic/Likely pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS745895175 PIEZO2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS745895362 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS745895675 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS745896785 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS745897889 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS745898229 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS745900279 ABCC6 Health Risk Pathogenic —
RS745901158 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Familial thoracic aortic aneurysm and aortic dissection
RS745901569 F11 Health Risk Conflicting classifications of pathogenicity —
RS745901803 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS745902829 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS745902921 TG Health Risk Pathogenic —
RS745905108 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, WRN-related disorder
RS745905902 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS745906742 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS745906833 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS745907077 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS745907116 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases
RS745910160 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS745910470 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS745911379 CTDP1 Health Risk Conflicting classifications of pathogenicity —
RS745911924 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS745912756 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS745913455 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS745914221 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS745915174 FLG Health Risk Pathogenic/Likely pathogenic Dermatitis, atopic
RS745915599 EIF2B2 Health Risk Conflicting classifications of pathogenicity —
RS745915863 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS745916117 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS745916400 EYS Health Risk Pathogenic —
RS745917689 SLC34A1 Health Risk Pathogenic —
RS745918507 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS745918943 SCN1A Health Risk Conflicting classifications of pathogenicity SCN1A-related disorder, Early-infantile DEE
RS745919223 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Inborn genetic diseases
RS745920240 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS745920419 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS745921568 DNM1L Health Risk Conflicting classifications of pathogenicity Obesity, Obesity
RS745921592 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS745925619 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS745926057 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS745926203 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS745926869 LAMB2 Health Risk Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS745927258 OPA1 Health Risk Pathogenic —
RS745928033 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS745928098 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745928222 DNAH14 Health Risk Conflicting classifications of pathogenicity —
RS745928497 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS745930102 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS745930390 DYNC2LI1 Health Risk Pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Short-rib thoracic dysplasia 15 with polydactyly
RS745930696 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS745933378 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS745934202 TTLL5 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS745934765 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS745935107 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS745935206 GNPAT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745935752 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS745936741 IMPG1 Health Risk Pathogenic —
RS745937181 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS745937740 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS745938575 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS745938679 CRYBB2 Health Risk Pathogenic Cataract 3 multiple types, Cataract 3 multiple types
RS745938838 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS745940032 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS745940158 NBAS Health Risk Conflicting classifications of pathogenicity —
RS745941308 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS745941309 ABCA3 Health Risk Pathogenic —
RS745942843 CYP4F22 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS745944305 MSTO1 Health Risk Pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Possible mitochondrial disorder - nuclear genes
RS745944842 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS745945481 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS745948150 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
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