SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1135401769 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS1135401770 ZBTB18 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 22
RS1135401771 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS1135401772 ATP6V1B2 Health Risk Likely pathogenic Zimmermann-Laband syndrome 2, Zimmermann-Laband syndrome 2
RS1135401773 MAOA Health Risk Likely pathogenic Brunner syndrome, Brunner syndrome
RS1135401776 KRAS Health Risk Likely pathogenic Noonan syndrome 3, Noonan syndrome 3
RS1135401777 GNAS Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism
RS1135401778 BPTF Health Risk Pathogenic Intellectual disability, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS1135401779 ZNF292 Health Risk Pathogenic Intellectual disability, Neurodevelopmental disorder
RS1135401784 CP Health Risk Pathogenic/Likely pathogenic Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation
RS1135401786 GABRB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 45
RS1135401787 MAP2K2 Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 4, Cardiofaciocutaneous syndrome 4
RS1135401788 GRIA3 Health Risk Pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS1135401789 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1135401790 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1135401791 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1135401792 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Inborn genetic diseases
RS1135401793 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS1135401794 HNRNPU Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 54
RS1135401795 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS1135401796 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1135401797 ZMYND11 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 30
RS1135401798 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1135401799 GRIN2B Health Risk Pathogenic Developmental and epileptic encephalopathy, 27
RS1135401800 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Inborn genetic diseases
RS1135401801 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS1135401802 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS1135401803 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1135401804 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1135401805 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1135401806 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1135401807 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1135401808 ADNP Health Risk Pathogenic/Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Intellectual disability
RS1135401809 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1135401810 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1135401811 SCN2A Health Risk Likely pathogenic Autism Spectrum Disorder with Intellectual Disability, Autism Spectrum Disorder with Intellectual Disability
RS1135401812 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS1135401813 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1135401814 MICU1 Health Risk Pathogenic Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS1135401815 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1135401816 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Intellectual disability
RS1135401817 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1135401818 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1135401819 STXBP1 Health Risk Likely pathogenic Non-syndromic intellectual disability, Non-syndromic intellectual disability
RS1135401820 FOXP2 Health Risk Likely pathogenic Childhood apraxia of speech, Childhood apraxia of speech
RS1135401821 ATP1A3 Health Risk Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Intellectual disability
RS1135401822 ATP1A3 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12
RS1135401823 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS1135401824 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS1135401825 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS1135401826 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast and/or ovarian cancer
RS1135401827 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1135401829 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401832 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1135401833 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1135401834 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1135401836 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401837 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401838 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401839 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401840 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401841 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401843 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401844 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS1135401845 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401846 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401847 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401848 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401849 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401850 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401851 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401852 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401853 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401855 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401856 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401857 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1135401858 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1135401859 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401860 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401864 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401865 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401866 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401867 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401868 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1135401869 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401870 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401871 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401872 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1135401873 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401874 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401877 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401878 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401879 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401880 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401881 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401882 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401883 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401887 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1135401888 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1135401890 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
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