SNP Directory

128 genetic variants in our database.

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All (128) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS104893683 B3GALNT1 Trait Affects p phenotype, p phenotype
RS104894517 HP Trait Affects Anhaptoglobinemia, Anhaptoglobinemia
RS104894669 BSG Trait Affects BLOOD GROUP--OK, BLOOD GROUP--OK
RS104894686 FUT1 Trait Affects Bombay phenotype, Bombay phenotype
RS11276 ART4 Trait Benign; Affects Blood group, Dombrock system
RS1131690771 CD55 Trait Affects Cromer blood group system, Cromer blood group system
RS118062001 ACKR1 Trait Affects Duffy Blood group system, Duffy Blood group system
RS118203895 LDHB Trait Affects Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
RS118203896 LDHB Trait Affects Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
RS118203897 LDHB Trait Affects Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
RS118204087 PKLR Trait Affects Pyruvate kinase hyperactivity, Pyruvate kinase hyperactivity
RS121434327 HAL Trait Affects Histidinemia, Histidinemia
RS121434328 HAL Trait Affects Histidinemia, Histidinemia
RS121434329 HAL Trait Affects Histidinemia, Histidinemia
RS121434330 HAL Trait Affects Histidinemia, Histidinemia
RS121434566 EPX Trait Affects Eosinophil peroxidase deficiency, Eosinophil peroxidase deficiency
RS121434586 IMPDH2 Trait Affects IMPDH2 enzyme activity, variation in
RS121908986 ALDH9A1 Trait Affects ALDH9A1*2 POLYMORPHISM, ALDH9A1*2 POLYMORPHISM
RS121912617 BHLHE41 Trait Affects Short sleep, familial natural
RS121912756 SLC4A1 Trait Affects BLOOD GROUP--FROESE, BLOOD GROUP--FROESE
RS121912760 GYPC Trait Affects Blood group, Gerbich system
RS121912761 GYPC Trait Affects Blood group, Gerbich system
RS121917831 EPOR Trait Affects Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS12203592 IRF4 Trait Affects Skin/hair/eye pigmentation, variation in
RS1248638537 RHD Trait Affects Weakened expression of D antigen, Weakened expression of D antigen
RS1273966098 KCTD7 Trait Uncertain significance; Affects Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS12821256 KITLG Trait Affects SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN
RS1347380973 AQP3 Trait Affects GIL BLOOD GROUP, GIL BLOOD GROUP
RS140559739 SARDH Trait Affects Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency
RS141055426 EPX Trait Affects Eosinophil peroxidase deficiency, Eosinophil peroxidase deficiency
RS1426116895 KLF1 Trait Affects BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR
RS1446786243 JAK3 Trait Affects Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS146357218 ARSG;PRKAR1A;WIPI1 Trait Affects Neural tube defect, Neural tube defect
RS147851584 KEL Trait Affects Kell blood group system, Kell blood group system
RS1484029620 STAB1 Trait Affects Isolated hyperferritinemia, Isolated hyperferritinemia
RS148441237 B4GALNT2 Trait Affects BLOOD GROUP, SID SYSTEM
RS149246522 SLC28A1 Trait Affects Uridine-cytidineuria, Uridine-cytidineuria
RS149391396 SARDH Trait Affects Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency
RS149481147 SARDH Trait Affects Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency
RS1553784995 SLC2A2 Trait Affects Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1555716041 EPOR Trait Affects Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS1555716045 EPOR Trait Affects Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS1555716047 EPOR Trait Affects Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS1559234527 ABCB6 Trait Affects Langereis blood group, Langereis blood group
RS1584304377 SLC26A4 Trait Affects Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1584337228 SLC26A4 Trait Affects Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1584337274 SLC26A4 Trait Affects Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1591838266 BHLHE41 Trait Affects Short sleep, familial natural
RS1719498256 AFP Trait Affects Alpha-fetoprotein, hereditary persistence of
RS1983951301 MYT1 Trait Affects Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS199552988 GSTZ1 Trait Affects Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency
RS200190472 ABCG2 Trait Affects BLOOD GROUP, JUNIOR SYSTEM
RS200235398 B3GALNT1 Trait Affects p phenotype, p phenotype
RS201643797 ADAM28 Trait Affects Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS202080221 SH2B3 Trait Affects Thrombocythemia 1, Hepatoblastoma
RS2124414255 RHCE Trait Affects altered RhC expression, altered RhC expression
RS2124622201 RHD Trait Affects weakened D expression by serology, weakened D expression by serology
RS2124674196 RHD Trait Affects serologic weak D phenotype, serologic weak D phenotype
RS2124675598 RHD Trait Affects weakened D expression by serology, weakened D expression by serology
RS2144694000 EPOR Trait Affects Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS2242047 SLC28A1 Trait Benign; Affects Uridine-cytidineuria, SLC28A1-related disorder
RS2293239 OGDHL Trait Affects Depression, Depression
RS2471650524 STAB1 Trait Affects Isolated hyperferritinemia, Isolated hyperferritinemia
RS2490441566 ABO Trait Affects ABO blood group system, ABO blood group system
RS267607202 KLF1 Trait Affects FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
RS267607212 LDHB Trait Affects Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
RS28757581 OR2J3 Trait Affects C3HEX, ability to smell
RS28937582 B3GALNT1 Trait Affects p phenotype, p phenotype
RS28940572 A4GALT Trait Affects p phenotype, p phenotype
RS3024778 PROZ Trait Affects Protein Z deficiency, Protein Z deficiency
RS37369 AGXT2 Trait Affects Beta-aminoisobutyric acid, urinary excretion of
RS3749977 OR2J3 Trait Affects C3HEX, ability to smell
RS387906279 A4GALT Trait Affects p phenotype, p phenotype
RS387906280 A4GALT Trait Affects p phenotype, p phenotype
RS387906296 ABCC11 Trait Affects APOCRINE GLAND SECRETION, VARIATION IN
RS387906869 ABCG2 Trait Affects BLOOD GROUP, JUNIOR SYSTEM
RS387906908 ABCB6 Trait Affects Langereis blood group, Langereis blood group
RS387906909 ABCB6 Trait Affects Langereis blood group, Langereis blood group
RS387907241 SEMA7A Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
RS397514504 SARDH Trait Affects Sarcosine dehydrogenase deficiency, Sarcosine dehydrogenase deficiency
RS397518446 EPX Trait Affects Eosinophil peroxidase deficiency, Eosinophil peroxidase deficiency
RS530929152 RHD Trait Affects weakened D expression by serology, weakened D expression by serology
RS5471 HP Trait Affects Anhaptoglobinemia, Anhaptoglobinemia
RS5515 KLK1 Trait Affects Kallikrein, decreased urinary activity of
RS55637216 SEMA7A Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
RS55722397 ABO Trait Affects ABO blood group system, ABO blood group system
RS56001514 SEMA7A Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
RS56047316 ERMAP Trait Affects Antigen in Scianna blood group system, Antigen in Scianna blood group system
RS56136737 ERMAP Trait Affects RADIN BLOOD GROUP ANTIGEN, RADIN BLOOD GROUP ANTIGEN
RS56204206 SEMA7A Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
RS56340844 ART4 Trait Affects Blood group, Dombrock system
RS56367230 SEMA7A Trait Affects John Milton Hagen blood group system, John Milton Hagen blood group system
RS56392308 ABO Trait Affects ABO blood group system, ABO blood group system
RS566629828 SMIM1 Trait Affects Vel blood group system, Vel blood group system
RS587776861 AFP Trait Affects Alpha-fetoprotein, hereditary persistence of
RS587777831 ART4 Trait Affects Blood group, Dombrock system
RS587777832 ART4 Trait Affects Blood group, Dombrock system
RS587777833 ART4 Trait Affects Blood group, Dombrock system
RS62542743 AQP7 Trait Affects GLYCEROL QUANTITATIVE TRAIT LOCUS, Cervical cancer
RS642742 KITLG Trait Affects SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN
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