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
RS2491193245 ARFGEF1 Health Risk Pathogenic —
RS2491199196 ADAMTS13 Health Risk Pathogenic —
RS2491201847 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2491202052 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2491206880 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491207258 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491207289 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491207478 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491207553 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491207743 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491207996 GABBR2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 59
RS2491208206 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491208697 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2491209605 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491209728 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491210783 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491211300 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS2491212714 ADAMTS13 Health Risk Likely pathogenic —
RS2491213298 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9
RS2491219604 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS2491229815 LARP4B Health Risk Likely pathogenic Myoepithelial tumor, Myoepithelial tumor
RS2491236071 CAMSAP1 Health Risk Pathogenic/Likely pathogenic CAMSAP1-related neuronal migration disorder, CAMSAP1-related neuronal migration disorder
RS2491236702 INVS Health Risk Likely pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2491240183 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2491240602 TG Health Risk Pathogenic —
RS2491244807 INVS Health Risk Pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2491245262 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2491256806 INVS Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2491257149 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2491263069 CAMSAP1 Health Risk Conflicting classifications of pathogenicity CAMSAP1-related neuronal migration disorder, Cortical dysplasia
RS2491263327 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2491264758 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2491269542 CAMSAP1 Health Risk Likely pathogenic CAMSAP1-related neuronal migration disorder, Cortical dysplasia
RS2491289899 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491289979 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2491301318 ARFGEF1 Health Risk Pathogenic —
RS2491339937 COL27A1 Health Risk Likely pathogenic —
RS2491340979 COL27A1 Health Risk Pathogenic —
RS2491349636 ADAMTS13 Health Risk Pathogenic Thrombotic thrombocytopenic purpura, Thrombotic thrombocytopenic purpura
RS2491362699 ARFGEF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2491362882 ARFGEF1 Health Risk Pathogenic Developmental delay, impaired speech
RS2491365757 ARFGEF1 Health Risk Likely pathogenic ARFGEF1-related disorder, ARFGEF1-related disorder
RS2491384447 PDCD6IP Health Risk Pathogenic Microcephaly 29, primary
RS2491390525 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2491397213 COL27A1 Health Risk Pathogenic —
RS2491399852 COL27A1 Health Risk Likely pathogenic —
RS2491405260 COL27A1 Health Risk Pathogenic —
RS2491414715 COL27A1 Health Risk Likely pathogenic —
RS2491434471 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2491447626 ARFGEF1 Health Risk Pathogenic —
RS2491448044 ARFGEF1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2491448473 ARFGEF1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2491449631 GATA3 Health Risk Pathogenic —
RS2491450507 COL27A1 Health Risk Likely pathogenic —
RS2491459864 GATA3 Health Risk Pathogenic See cases, See cases
RS2491460045 GATA3 Health Risk Pathogenic —
RS2491460705 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS2491461227 GATA3 Health Risk Pathogenic —
RS2491461355 GATA3 Health Risk Pathogenic Deafness, autosomal dominant
RS2491461857 GATA3 Health Risk Likely pathogenic GATA3-related disorder, GATA3-related disorder
RS2491462423 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS2491463738 GATA3 Health Risk Pathogenic —
RS2491464339 GATA3 Health Risk Pathogenic —
RS2491464614 ARFGEF1 Health Risk Pathogenic Developmental delay, impaired speech
RS2491464754 GATA3 Health Risk Likely pathogenic Hypoparathyroidism, deafness
RS2491464855 GATA3 Health Risk Pathogenic —
RS2491465476 ARFGEF1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2491465612 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491466419 GATA3 Health Risk Likely pathogenic Hypoparathyroidism, deafness
RS2491470714 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491475182 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491477380 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491477929 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 1
RS2491483344 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491483375 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491483952 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491484177 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491484187 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491484424 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491484630 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491484645 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491484828 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491484950 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2491485235 GATA3 Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism, deafness
RS2491485930 GATA3 Health Risk Likely pathogenic Hypoparathyroidism, deafness
RS2491491847 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491491951 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491492247 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491492843 ABCA2 Health Risk Pathogenic Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
RS2491494919 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491496929 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491500575 ABCA2 Health Risk Likely pathogenic Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
RS2491503781 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491510569 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 1
RS2491513673 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2491523011 WHRN Health Risk Likely pathogenic Usher syndrome type 2D, Usher syndrome type 2D
RS2491523324 WHRN Health Risk Pathogenic —
RS2491529211 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2491530582 WHRN Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2491536548 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
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