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
RS2519326222 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, PIGA-related disorder
RS2519331621 PIGA Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, PIGA-related disorder
RS2519331657 PIGA Health Risk Likely pathogenic Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1
RS2519331818 PIGA Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS2519331896 PIGA Health Risk Likely pathogenic Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1
RS2519331917 PIGA Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS2519331925 PIGA Health Risk Likely pathogenic Paroxysmal nocturnal hemoglobinuria 1, Paroxysmal nocturnal hemoglobinuria 1
RS2519331987 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS2519335932 USP9X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 99
RS2519339591 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2519339692 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2519339792 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2519339796 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2519341308 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2519343566 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519343661 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519343724 GATA1 Health Risk Pathogenic GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS2519343730 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519343771 GATA1 Health Risk Pathogenic GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS2519343795 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519343812 GATA1 Health Risk Likely pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519343818 GATA1 Health Risk Likely pathogenic X-linked dyserythropoetic anemia with abnormal platelets and neutropenia, X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
RS2519343836 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519343848 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519343851 GATA1 Health Risk Likely pathogenic GATA1-related disorder, GATA1-related disorder
RS2519343869 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519343917 GATA1 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519344800 GATA1 Health Risk Pathogenic GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519344834 GATA1 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2519344939 GATA1 Health Risk Likely pathogenic —
RS2519345698 GATA1 Health Risk Likely pathogenic —
RS2519345787 GATA1 Health Risk Pathogenic Thrombocytopenia, X-linked
RS2519346409 GATA1 Health Risk Pathogenic Thrombocytopenia, X-linked
RS2519351408 GK Health Risk Likely pathogenic —
RS2519358174 CNKSR2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked
RS2519358649 CNKSR2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519366750 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS2519366804 USP9X Health Risk Likely pathogenic —
RS2519366970 HDAC6 Health Risk Pathogenic X-linked dominant chondrodysplasia, Chassaing-Lacombe type
RS2519371254 USP9X Health Risk Likely pathogenic —
RS2519371283 USP9X Health Risk Likely pathogenic Intellectual disability, X-linked 99
RS2519371757 KDM5C Health Risk Likely pathogenic —
RS2519373425 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2519374784 KDM5C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519375513 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2519375555 USP9X Health Risk Likely pathogenic USP9X-related disorder, USP9X-related disorder
RS2519376156 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519376608 DEPDC5 Health Risk Likely pathogenic —
RS2519378333 DEPDC5 Health Risk Likely pathogenic —
RS2519378518 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2519378722 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2519378830 DEPDC5 Health Risk Likely pathogenic —
RS2519379527 USP9X Health Risk Pathogenic —
RS2519380176 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2519380477 BCOR Health Risk Pathogenic —
RS2519380502 FTSJ1 Health Risk Pathogenic Intellectual disability, X-linked 9
RS2519380736 KDM5C Health Risk Likely pathogenic —
RS2519380755 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2519382131 FTSJ1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519382563 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2519384114 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2519384720 FTSJ1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519387409 PLXNB2 Health Risk Pathogenic See cases, See cases
RS2519391305 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2519393316 FTSJ1 Health Risk Pathogenic Intellectual disability, X-linked 9
RS2519396147 KDM5C Health Risk Likely pathogenic Spastic paraplegia, Thyroid cancer
RS2519397087 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2519397094 CLCN5 Health Risk Likely pathogenic —
RS2519397631 KDM5C Health Risk Pathogenic —
RS2519397716 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2519399940 KDM5C Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2519400065 USP9X Health Risk Likely pathogenic —
RS2519406899 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2519406951 CLCN5 Health Risk Pathogenic —
RS2519412851 USP9X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 99
RS2519413099 USP9X Health Risk Pathogenic —
RS2519417240 KDM5C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519418774 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS2519419185 CLCN5 Health Risk Likely pathogenic —
RS2519419481 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS2519421361 NLGN4X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519421939 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2519421979 NLGN4X Health Risk Pathogenic —
RS2519422022 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2519422486 CLCN5 Health Risk Pathogenic/Likely pathogenic Dent disease type 1, Hypophosphatemic rickets
RS2519431860 CLCN5 Health Risk Pathogenic —
RS2519433029 CLCN5 Health Risk Likely pathogenic —
RS2519433160 CLCN5 Health Risk Pathogenic —
RS2519433497 CLCN5 Health Risk Pathogenic —
RS2519434099 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2519434808 CLCN5 Health Risk Pathogenic —
RS2519434988 CLCN5 Health Risk Likely pathogenic Proteinuria, low molecular weight
RS2519435022 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS2519435176 CLCN5 Health Risk Pathogenic —
RS2519435406 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2519435651 PLXNB2 Health Risk Pathogenic See cases, See cases
RS2519440356 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Dent disease type 1
RS2519440480 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Hypophosphatemic rickets
RS2519440912 CLCN5 Health Risk Likely pathogenic —
RS2519442928 PORCN Health Risk Pathogenic Focal dermal hypoplasia, Focal dermal hypoplasia
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