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
RS2494022527 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS2494022602 DNA2 Health Risk Likely pathogenic Seckel syndrome 8, Seckel syndrome 8
RS2494023044 BAG3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1HH
RS2494023519 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2494023585 BAG3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2494023702 BAG3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2494024121 BAG3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2494024470 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 6
RS2494042416 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2494042487 EBF3 Health Risk Likely pathogenic EBF3-related disorder, EBF3-related disorder
RS2494042652 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2494047144 CDH23 Health Risk Pathogenic —
RS2494047742 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494051576 CDH23 Health Risk Pathogenic —
RS2494057078 DNHD1 Health Risk Pathogenic —
RS2494059270 RBP4 Health Risk Likely pathogenic Anterior segment dysgenesis, Anterior segment dysgenesis
RS2494059342 RBP4 Health Risk Likely pathogenic Bilateral microphthalmos, Congenital ocular coloboma
RS2494061323 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494061572 CDH23 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2494061798 CDH23 Health Risk Pathogenic —
RS2494062084 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2494068271 RBP4 Health Risk Pathogenic —
RS2494068419 RBP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS2494068964 RBP4 Health Risk Likely pathogenic Anophthalmia, Anophthalmia
RS2494071047 CDH23 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS2494071154 CDH23 Health Risk Pathogenic —
RS2494071243 CDH23 Health Risk Pathogenic —
RS2494071259 CDH23 Health Risk Likely pathogenic —
RS2494071871 DNHD1 Health Risk Pathogenic —
RS2494075356 DNHD1 Health Risk Pathogenic —
RS2494092557 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2494092869 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494092971 CDH23 Health Risk Pathogenic —
RS2494100057 SLC6A5 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2494103487 HPS5 Health Risk Pathogenic —
RS2494105360 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2494105581 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2494118752 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494120063 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS2494120123 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2494120337 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2494120459 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2494120481 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2494121508 PIK3C2A Health Risk Pathogenic —
RS2494125336 PIK3C2A Health Risk Pathogenic —
RS2494126465 ASCC1 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
RS2494128054 SOX6 Health Risk Pathogenic/Likely pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS2494128138 SOX6 Health Risk Likely pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS2494138876 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2494141839 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS2494142176 KCNQ1 Health Risk Pathogenic Cardiac arrhythmia, Long QT syndrome
RS2494146132 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2494146135 KCNQ1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2494152459 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494152884 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494152903 CDH23 Health Risk Pathogenic —
RS2494152958 HPS5 Health Risk Likely pathogenic —
RS2494153943 HPS5 Health Risk Pathogenic —
RS2494155968 SOX6 Health Risk Likely pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS2494158241 HPS5 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 5
RS2494184441 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494184862 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2494185218 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494186407 CDH23 Health Risk Pathogenic —
RS2494186911 HPS5 Health Risk Likely pathogenic —
RS2494187565 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494188813 MPDZ Health Risk Pathogenic —
RS2494190378 HPS5 Health Risk Pathogenic —
RS2494195563 HPS5 Health Risk Pathogenic —
RS2494198017 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS2494207017 HPS5 Health Risk Pathogenic —
RS2494207964 HPS5 Health Risk Pathogenic —
RS2494209594 CDH23 Health Risk Pathogenic —
RS2494209917 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494210085 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494214000 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494214067 CDH23 Health Risk Pathogenic —
RS2494214314 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494214321 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494214379 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494214547 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494214598 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2494217685 CDH23 Health Risk Pathogenic —
RS2494217920 CDH23 Health Risk Likely pathogenic —
RS2494218111 CDH23 Health Risk Pathogenic —
RS2494220581 CSRP3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2494220865 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS2494220986 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2494223112 CSRP3 Health Risk Likely pathogenic Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS2494223132 CSRP3 Health Risk Pathogenic Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS2494223496 CSRP3 Health Risk Pathogenic Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS2494224184 HPS5 Health Risk Likely pathogenic —
RS2494225430 SOX6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2494229088 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS2494255442 ANO5 Health Risk Pathogenic/Likely pathogenic —
RS2494255828 PLCE1 Health Risk Likely pathogenic Nephrotic syndrome, type 3
RS2494261394 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494261439 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494267841 CYP2R1 Health Risk Pathogenic —
RS2494270607 CYP2R1 Health Risk Pathogenic —
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