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
RS2486985503 RPS20 Health Risk Likely pathogenic —
RS2486986598 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486987142 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486987213 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486987392 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486987534 ANK1 Health Risk Likely pathogenic —
RS2486987573 ANK1 Health Risk Likely pathogenic ANK1-related disorder, ANK1-related disorder
RS2486987938 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486988302 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486988534 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486993028 DDHD2 Health Risk Likely pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS2486996437 GATA4 Health Risk Pathogenic Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS2486997282 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486997285 ANK1 Health Risk Pathogenic —
RS2486997376 ANK1 Health Risk Pathogenic —
RS2486997588 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2486998975 RHOBTB2 Health Risk Likely pathogenic See cases, See cases
RS2486999040 RHOBTB2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 64
RS2486999107 RHOBTB2 Health Risk Pathogenic RHOBTB2-related disorder, RHOBTB2-related disorder
RS2486999855 DDHD2 Health Risk Likely pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS2487001941 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487001985 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487002050 ANK1 Health Risk Pathogenic —
RS2487002864 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2487003169 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2487003212 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2487009371 IKBKB Health Risk Likely pathogenic IKBKB-related disorder, IKBKB-related disorder
RS2487010539 RHOBTB2 Health Risk Conflicting classifications of pathogenicity —
RS2487015049 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487015109 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS2487015299 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487015403 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS2487015952 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487025773 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS2487027092 THAP1 Health Risk Pathogenic/Likely pathogenic Torsion dystonia 6, Torsion dystonia 6
RS2487029590 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487030075 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487030414 THAP1 Health Risk Likely pathogenic Torsion dystonia 6, Torsion dystonia 6
RS2487030539 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS2487030586 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS2487030639 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS2487031587 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487031771 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS2487033881 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS2487034068 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487034267 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS2487034928 MOS Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 20, Oocyte/zygote/embryo maturation arrest 20
RS2487034940 MOS Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 20, Oocyte/zygote/embryo maturation arrest 20
RS2487035279 MOS Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 20, Oocyte/zygote/embryo maturation arrest 20
RS2487035768 MOS Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 20, Oocyte/zygote/embryo maturation arrest 20
RS2487036103 ANK1 Health Risk Pathogenic —
RS2487036131 MOS Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 20, Oocyte/zygote/embryo maturation arrest 20
RS2487036236 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2487036360 ANK1 Health Risk Pathogenic —
RS2487036515 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2487039629 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS2487042104 THAP1 Health Risk Likely pathogenic Torsion dystonia 6, Torsion dystonia 6
RS2487042279 THAP1 Health Risk Conflicting classifications of pathogenicity Torsion dystonia 6, Torsion dystonia 6
RS2487042330 THAP1 Health Risk Pathogenic/Likely pathogenic Torsion dystonia 6, Torsion dystonia 6
RS2487050998 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2487056938 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS2487057016 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS2487057516 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS2487058978 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS2487059083 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487059108 STAR Health Risk Pathogenic —
RS2487059186 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487059203 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS2487059295 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS2487060422 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS2487060716 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS2487061701 STAR Health Risk Pathogenic —
RS2487061977 KAT6A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2487062128 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS2487062209 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487062211 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487062310 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487062427 KAT6A Health Risk Likely pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS2487063127 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487063325 STAR Health Risk Pathogenic —
RS2487063377 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487063393 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487064604 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS2487064738 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487064869 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487065042 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487067183 STAR Health Risk Pathogenic —
RS2487067364 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487067543 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487067594 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487067650 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487068851 STAR Health Risk Pathogenic —
RS2487069210 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487069265 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2487069292 STAR Health Risk Pathogenic —
RS2487074150 STAR Health Risk Pathogenic —
RS2487074342 STAR Health Risk Pathogenic —
RS2487076683 SLC20A2 Health Risk Likely pathogenic —
RS2487082521 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2487082948 BPNT2 Health Risk Likely pathogenic Chondrodysplasia with joint dislocations, gPAPP type
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