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
RS192651565 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1926524710 BTK Health Risk Pathogenic —
RS192653658 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS1926541478 PCDH19 Health Risk Pathogenic Complex febrile seizure, Complex febrile seizure
RS192654796 SCD5 Health Risk Pathogenic Hearing loss, autosomal dominant 79
RS192655097 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS192656109 MED12 Health Risk Conflicting classifications of pathogenicity Intellectual disability, FG syndrome
RS1926563302 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926563553 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS192656357 ABCA4 Health Risk Pathogenic —
RS1926563964 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer
RS192656420 CREB3L1 Health Risk Conflicting classifications of pathogenicity CREB3L1-related disorder, Inborn genetic diseases
RS1926565039 NR0B1 Health Risk Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS1926565370 NR0B1 Health Risk Pathogenic —
RS1926565907 NR0B1 Health Risk Pathogenic 46, XY sex reversal 2
RS1926575027 NR0B1 Health Risk Pathogenic NR0B1-related disorder, NR0B1-related disorder
RS1926588125 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926588297 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1926599738 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1926602170 NR0B1 Health Risk Pathogenic 46, XY sex reversal 2
RS1926614700 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1926616715 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1926617807 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1926620965 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS1926621737 ATP6AP2 Health Risk Pathogenic Congenital disorder of glycosylation, type IIr
RS192665139 ACSL4 Health Risk Conflicting classifications of pathogenicity Non-syndromic X-linked intellectual disability, Non-syndromic X-linked intellectual disability
RS1926691614 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS192669216 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS192669225 AMPD2 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Brain malformation
RS1926696248 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926705172 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS1926706805 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS1926708861 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1926710166 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1926711302 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS192673935 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1
RS192675802 DACH1 Health Risk Conflicting classifications of pathogenicity —
RS1926794975 PEX26 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS1926795050 ATP6AP2 Health Risk Pathogenic Syndromic X-linked intellectual disability Hedera type, Syndromic X-linked intellectual disability Hedera type
RS192679574 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS192681330 LBR Health Risk Pathogenic —
RS1926837956 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1926838663 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS192686066 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS1926865530 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1926867009 PHEX Health Risk Pathogenic —
RS1926867732 PHEX Health Risk Pathogenic —
RS1926868266 PHEX Health Risk Pathogenic —
RS1926870020 PHEX Health Risk Pathogenic —
RS1926871732 PHEX Health Risk Pathogenic —
RS1926871899 PHEX Health Risk Pathogenic —
RS1926873715 PHEX Health Risk Pathogenic —
RS1926874291 PHEX Health Risk Pathogenic —
RS1926875686 PHEX Health Risk Likely pathogenic —
RS192688285 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS192691397 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS1926975943 BTK Health Risk Pathogenic —
RS1926977049 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1927001903 CDKL5 Health Risk Pathogenic CDKL5 disorder, CDKL5 disorder
RS1927008194 CHM Health Risk Pathogenic —
RS1927009899 CHM Health Risk Pathogenic —
RS1927017073 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1927036027 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, Thyroid cancer
RS1927036604 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS192704075 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Troyer syndrome
RS1927078072 RAC2 Health Risk Pathogenic Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
RS1927110683 RAC2 Health Risk Likely pathogenic Neutrophil immunodeficiency syndrome, Neutrophil immunodeficiency syndrome
RS1927126429 PHEX Health Risk Pathogenic —
RS192712847 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS1927131178 PHEX Health Risk Pathogenic —
RS1927139054 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1927142990 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS1927146242 CDKL5 Health Risk Likely pathogenic CDKL5-related disorder, CDKL5-related disorder
RS1927146374 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1927166327 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1927168815 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1927172387 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS192717273 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS192721019 STAMBP Health Risk Conflicting classifications of pathogenicity Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS192722540 MYH7 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
RS192732174 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS1927322453 F9 Health Risk Pathogenic Hemophilia B leyden, Hemophilia B leyden
RS1927322926 F9 Health Risk Pathogenic/Likely pathogenic Hemophilia B leyden, Thrombophilia
RS1927328297 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1927329129 F9 Health Risk Likely pathogenic Thrombophilia, X-linked
RS192734396 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1927349741 SOX3 Health Risk Conflicting classifications of pathogenicity Panhypopituitarism, X-linked
RS1927377513 STS Health Risk Likely pathogenic X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS1927393826 RAC2 Health Risk Likely pathogenic Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Neutrophil immunodeficiency syndrome
RS192739957 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS192740549 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS192749274 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inborn genetic diseases
RS1927493197 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1927497998 F9 Health Risk Pathogenic —
RS1927498635 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1927499978 F9 Health Risk Likely pathogenic —
RS1927507602 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1927508585 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1927509977 TMPRSS6 Health Risk Pathogenic Microcytic anemia, Microcytic anemia
RS1927567325 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
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