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
RS1563268652 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1563268785 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1563275256 KRIT1 Health Risk Pathogenic/Likely pathogenic —
RS1563275284 KRIT1 Health Risk Likely pathogenic —
RS1563275562 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563279045 KRIT1 Health Risk Pathogenic —
RS1563288201 KMT2C Health Risk Pathogenic Neoplasm, Neoplasm
RS1563290033 FDFT1 Health Risk Likely pathogenic Squalene synthase deficiency, Squalene synthase deficiency
RS1563292586 RHOBTB2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 64
RS1563293555 HOOK3 Health Risk Likely pathogenic Short stature, Short stature
RS1563301305 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563301527 KRIT1 Health Risk Likely pathogenic —
RS1563301954 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563302930 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation
RS1563302941 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563302951 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563303222 KRIT1 Health Risk Likely pathogenic —
RS1563305064 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563305269 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563305588 KRIT1 Health Risk Pathogenic —
RS1563305648 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563305909 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563306485 KRIT1 Health Risk Likely pathogenic —
RS1563307239 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563307254 KRIT1 Health Risk Likely pathogenic —
RS1563309967 KRIT1 Health Risk Likely pathogenic —
RS1563312884 DDHD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1563313372 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563319114 CHRNA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
RS1563321624 KRIT1 Health Risk Likely pathogenic —
RS1563322318 ERI1 Health Risk Likely pathogenic Abnormal finger morphology, Coarse facial features
RS1563326405 PLPBP Health Risk Likely pathogenic Epilepsy, early-onset
RS1563329555 WRN Health Risk Likely pathogenic —
RS1563329888 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinal dystrophy
RS1563330296 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS1563330595 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS1563331288 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1563331663 RP1 Health Risk Pathogenic —
RS1563331742 RP1 Health Risk Pathogenic —
RS1563333233 RP1 Health Risk Pathogenic —
RS1563338837 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563338855 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1563339055 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563339062 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1563339323 FDFT1 Health Risk Likely pathogenic Squalene synthase deficiency, Squalene synthase deficiency
RS1563340753 IKBKB Health Risk Pathogenic Immunodeficiency 15a, Severe combined immunodeficiency due to IKK2 deficiency
RS1563341296 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1563351045 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1563352011 TTI2 Health Risk Likely pathogenic Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
RS1563357741 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563357810 MOS Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 20, Oocyte/zygote/embryo maturation arrest 20
RS1563361838 IKBKB Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1563363293 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1563366896 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1563367625 CYP7B1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1563376347 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1563376526 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563376595 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563376793 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1563382597 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1563385391 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1563390893 CA8 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS1563391747 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1563398977 CUX1 Health Risk Pathogenic/Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS1563406024 FZD3 Health Risk Likely pathogenic Corpus callosum, agenesis of
RS1563422304 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Branchiootorenal syndrome 1
RS1563422500 EYA1 Health Risk Likely pathogenic —
RS1563423589 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, EYA1-related disorder
RS1563431044 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1563433095 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS1563433902 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with anosmia, Hartsfield-Bixler-Demyer syndrome
RS1563435458 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS1563435595 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS1563436030 POR Health Risk Likely pathogenic —
RS1563436097 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS1563436265 FGFR1 Health Risk Pathogenic/Likely pathogenic Hartsfield-Bixler-Demyer syndrome, Cerebellar vermis hypoplasia
RS1563446668 CUX1 Health Risk Pathogenic/Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS1563452322 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1563452873 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1563452941 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1563453866 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1563458773 TMEM67 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1563460197 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1563468940 ESCO2 Health Risk Pathogenic —
RS1563470335 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS1563474005 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1563477144 CFAP418 Health Risk Pathogenic Bardet-biedl syndrome 21, Retinitis pigmentosa
RS1563477343 CFAP418 Health Risk Pathogenic —
RS1563488907 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1563490467 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1563497529 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1563497714 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1563497719 SLC20A2 Health Risk Conflicting classifications of pathogenicity Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1563497733 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1563497844 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1563497932 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1563498184 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1563499381 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1563502820 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1563509743 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
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