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
RS1594910045 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1594910243 VIPAS39 Health Risk Likely pathogenic Arthrogryposis, renal dysfunction
RS1594912625 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS1594913346 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1594915468 KIF5A Health Risk Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 10
RS1594925773 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1594929571 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS1594930532 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1594937657 ZFYVE26 Health Risk Likely pathogenic —
RS1594938339 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1594944871 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1594952007 OTX2 Health Risk Pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS1594952111 OTX2 Health Risk Pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS1594952158 OTX2 Health Risk Likely pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS1594961338 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1594961620 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1594966387 ARID4A Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1594970015 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS1594971274 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS1594982548 SOS2 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 9
RS1594982939 GCH1 Health Risk Pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1594986869 SPTLC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Neuropathy
RS1594987281 PABPN1 Health Risk Pathogenic/Likely pathogenic Oculopharyngeal muscular dystrophy, Oculopharyngeal muscular dystrophy
RS1594989087 GCH1 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1594992191 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1594996301 SRP54 Health Risk Likely pathogenic Neutropenia, severe congenital
RS1594998354 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Alzheimer disease 3
RS1595001710 SOS2 Health Risk Pathogenic Noonan syndrome, Noonan syndrome 9
RS1595004126 SRP54 Health Risk Pathogenic Neutropenia, severe congenital
RS1595004676 SRP54 Health Risk Pathogenic Neutropenia, severe congenital
RS1595009158 TTLL5 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1595009164 EIF2B2 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS1595031209 GCH1 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1595031221 GCH1 Health Risk Pathogenic/Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1595031524 GCH1 Health Risk Pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1595031674 GCH1 Health Risk Pathogenic GTP cyclohydrolase I deficiency, Dystonia 5
RS1595031768 GCH1 Health Risk Pathogenic GTP cyclohydrolase I deficiency, GTP cyclohydrolase I deficiency
RS1595033018 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1595035030 PSEN1 Health Risk Pathogenic Acne inversa, familial
RS1595050325 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 23, Joubert syndrome 23
RS1595070689 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Myosin storage myopathy
RS1595070747 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595080617 F7 Health Risk Likely pathogenic Factor VII deficiency, Factor VII deficiency
RS1595080725 F7 Health Risk Likely pathogenic Abnormal bleeding, Abnormality of coagulation
RS1595080787 BCL11B Health Risk Pathogenic —
RS1595081779 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1595084560 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1595084583 MYH7 Health Risk Pathogenic Dilated cardiomyopathy 1S, Dilated cardiomyopathy 1S
RS1595085409 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1595085511 RALGAPA1 Health Risk Pathogenic Feeding difficulties, Neurodevelopmental disorder with hypotonia
RS1595086845 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S
RS1595089520 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1595091114 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1595098100 F10 Health Risk Likely pathogenic Abnormal bleeding, Abnormal bleeding
RS1595099527 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS1595099645 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS1595099844 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS1595102640 CALM1 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14
RS1595108790 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1595110484 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1595110689 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1595110740 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1595112176 TECPR2 Health Risk Likely pathogenic —
RS1595123894 TECPR2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1595127294 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome
RS1595130972 MAX Health Risk Likely pathogenic —
RS1595137877 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS1595158200 LOC130056226;SPATA7 Health Risk Pathogenic —
RS1595163730 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS1595163736 INF2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Focal segmental glomerulosclerosis 5
RS1595163820 INF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate E
RS1595163851 INF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Focal segmental glomerulosclerosis 5
RS1595164081 INF2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Focal segmental glomerulosclerosis 5
RS1595164091 INF2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Focal segmental glomerulosclerosis 5
RS1595166085 INF2 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 5, INF2-related disorder
RS1595166895 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1595168879 TTLL5 Health Risk Pathogenic/Likely pathogenic —
RS1595179250 TSHR Health Risk Pathogenic/Likely pathogenic —
RS1595184407 TPP2 Health Risk Pathogenic Evans syndrome, immunodeficiency
RS1595188566 TPP2 Health Risk Pathogenic Evans syndrome, immunodeficiency
RS1595190129 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1595202534 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1595202607 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1595204045 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1595208914 CDC42BPB Health Risk Likely pathogenic CDC42BPB-related neurodevelopmental syndrome, CDC42BPB-related neurodevelopmental syndrome
RS1595214071 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1595214545 BCL11B Health Risk Pathogenic —
RS1595214864 BCL11B Health Risk Pathogenic —
RS1595215209 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1595215462 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1595231072 ISCA2 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 4, Multiple mitochondrial dysfunctions syndrome 4
RS1595236063 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1595236714 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1595241291 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS1595246385 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1595251483 AKT1 Health Risk Pathogenic Proteus syndrome, Proteus syndrome
RS1595270842 SPATA7 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis 3
RS1595286986 FBLN5 Health Risk Pathogenic Macular degeneration, age-related
RS1595298328 MKRN3 Health Risk Likely pathogenic —
RS1595309671 YY1 Health Risk Pathogenic —
« Prev 1 ... 1107 1108 1109 1110 1111 1112 1113 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →