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
RS797045807 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045808 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045809 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045810 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045811 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045812 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045813 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045814 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045815 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045816 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045817 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045819 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045820 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045821 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045823 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045824 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045825 NSD1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Sotos syndrome
RS797045826 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045827 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045828 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045829 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045830 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045831 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045832 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045833 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS797045834 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045835 NSDHL Health Risk Pathogenic Child syndrome, Child syndrome
RS797045837 NSUN2 Health Risk Conflicting classifications of pathogenicity —
RS797045838 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS797045839 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS797045840 OCLN Health Risk Pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS797045841 OCLN Health Risk Conflicting classifications of pathogenicity Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS797045846 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS797045847 OFD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS797045848 OFD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS797045852 ORC4 Health Risk Pathogenic Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
RS797045853 ORC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS797045855 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045857 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045858 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045859 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045861 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045863 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045864 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045865 PAFAH1B1 Health Risk Pathogenic/Likely pathogenic Lissencephaly due to LIS1 mutation, Inborn genetic diseases
RS797045866 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045867 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045868 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045869 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045870 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045871 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045872 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS797045873 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS797045874 PCNT Health Risk Conflicting classifications of pathogenicity —
RS797045875 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS797045879 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS797045885 PDX1 Health Risk Conflicting classifications of pathogenicity —
RS797045888 PLA2G6 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy
RS797045889 PLA2G6 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 2B
RS797045895 POLR3B Health Risk Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS797045898 POMT2 Health Risk Pathogenic Muscular dystrophy, Muscular dystrophy
RS797045899 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS797045900 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS797045904 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, Hereditary cancer-predisposing syndrome
RS797045905 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS797045907 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS797045908 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS797045909 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS797045912 RELN Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS797045915 RELN Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS797045916 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS797045918 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome 7, Joubert syndrome 7
RS797045919 RPS26 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia
RS797045920 RPS6KA3 Health Risk Pathogenic Intellectual disability, X-linked 19
RS797045923 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS797045928 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS797045930 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS797045931 RYR1 Health Risk Pathogenic Myopathy, RYR1-related disorder
RS797045932 RYR1 Health Risk Conflicting classifications of pathogenicity Myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS797045933 RYR1 Health Risk Conflicting classifications of pathogenicity Myopathy, Malignant hyperthermia
RS797045934 RYR1 Health Risk Pathogenic Myopathy, RYR1-related disorder
RS797045935 RYR1 Health Risk Pathogenic Myopathy, Myopathy
RS797045936 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS797045937 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS797045938 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS797045939 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS797045940 SCN1A Health Risk Pathogenic/Likely pathogenic Autosomal dominant epilepsy, Early-infantile DEE
RS797045941 SCN1A Health Risk Likely pathogenic Seizure, Seizure
RS797045942 SCN2A Health Risk Pathogenic/Likely pathogenic Seizure, Complex neurodevelopmental disorder
RS797045943 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS797045945 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS797045946 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS797045947 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS797045948 SDCCAG8 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome
RS797045950 SELENON Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Eichsfeld type congenital muscular dystrophy
RS797045952 SETBP1 Health Risk Pathogenic Schinzel-Giedion syndrome, Intellectual disability
RS797045954 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045955 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045956 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS797045957 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
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