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
RS1844047388 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS184406592 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1844079566 CYP17A1 Health Risk Pathogenic —
RS1844105442 CYP17A1 Health Risk Pathogenic —
RS1844105842 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, CYP17A1-related disorder
RS1844112588 CYP17A1 Health Risk Pathogenic —
RS1844126291 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS184412722 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS1844127277 CYP17A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, 17-alpha-hydroxylase/17
RS1844147475 CYP17A1 Health Risk Pathogenic 17-alpha-hydroxylase/17, 20-lyase deficiency
RS1844148108 CYP17A1 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase
RS1844148492 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS184415910 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS184416837 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, ANO10-related disorder
RS1844178791 CYP17A1 Health Risk Pathogenic —
RS1844189531 WHRN Health Risk Pathogenic —
RS184421227 ALPK1 Health Risk Conflicting classifications of pathogenicity —
RS184423691 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS1844239683 WHRN Health Risk Pathogenic —
RS184424910 TRPM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1844254450 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1844258324 WHRN Health Risk Pathogenic —
RS1844265121 WHRN Health Risk Pathogenic —
RS184428451 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS184430616 C3 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS1844328920 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1844336329 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1844347315 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1844355459 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1844357538 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS184435771 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Inborn genetic diseases
RS184436336 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1844371653 HPS1 Health Risk Pathogenic —
RS1844383228 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1844385255 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS184441390 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1844420892 ERLIN1 Health Risk Pathogenic Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis
RS184442491 SCN5A Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS1844429967 KIF11 Health Risk Pathogenic —
RS1844462368 KIF11 Health Risk Pathogenic/Likely pathogenic KIF11-related disorder, KIF11-related disorder
RS1844462612 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS184448644 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS184448909 NPAT Health Risk Conflicting classifications of pathogenicity —
RS184450380 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1844517913 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS184452501 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS184455094 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS184458742 CUL7 Health Risk Pathogenic —
RS184458982 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1844615558 KIF11 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1844616024 KIF11 Health Risk Pathogenic —
RS1844616530 KIF11 Health Risk Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema
RS184466929 MYO3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS184466963 BICC1 Health Risk Conflicting classifications of pathogenicity —
RS1844679510 DYNC2I1 Health Risk Pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS184469579 TRIT1 Health Risk Pathogenic/Likely pathogenic TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35
RS184471591 COQ7 Health Risk Conflicting classifications of pathogenicity —
RS1844718876 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS184471981 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1844740327 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS184474885 AIFM1 Health Risk Conflicting classifications of pathogenicity Deafness, X-linked 5
RS1844748933 SORCS1 Health Risk Likely pathogenic Alzheimer disease 6, Alzheimer disease 6
RS1844750166 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1844750861 KIF11 Health Risk Pathogenic —
RS184475699 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS1844763810 KIF11 Health Risk Conflicting classifications of pathogenicity —
RS1844781627 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1844781818 SETX Health Risk Likely pathogenic —
RS1844785287 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1844794840 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS184483616 ENPP1 Health Risk Pathogenic —
RS1844845643 KIF11 Health Risk Pathogenic/Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS184484842 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1844907904 KIF11 Health Risk Pathogenic/Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1844909478 KIF11 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1844909724 KIF11 Health Risk Pathogenic —
RS1844910145 KIF11 Health Risk Pathogenic —
RS1844914479 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1844914867 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1844915022 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1844916553 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS184492796 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS1844937854 SETX Health Risk Likely pathogenic —
RS1844944116 KIF11 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1844944666 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS184494733 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS1845000530 HPS1 Health Risk Pathogenic —
RS184500376 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, ZNF513-related disorder
RS1845024278 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Lymphangiomyomatosis
RS1845031012 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845037495 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845043593 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845043842 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845044801 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS184506506 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1845068091 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1845081620 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845082934 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845099509 UNC5B Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS1845118974 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
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