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
RS4795895	CCL11	Protective	protective	Susceptibility to HIV infection, Susceptibility to HIV infection
RS4804803	CD209	Protective	protective; risk factor	Susceptibility to HIV infection, Mycobacterium tuberculosis
RS547154	C2	Protective	protective	Age related macular degeneration 14, Age related macular degeneration 14
RS5743618	TLR1	Protective	Conflicting classifications of pathogenicity; protective	Leprosy, protection against
RS5743810	TLR6	Protective	protective	Leprosy, susceptibility to
RS5744168	TLR5	Protective	protective; risk factor	Legionnaire disease, susceptibility to
RS587777582	SLC30A8	Protective	protective	Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS61734659	PRSS2	Protective	protective	Pancreatitis, chronic
RS698	ADH1C	Protective	protective	Alcohol dependence, Alcohol dependence
RS9282799	NOS2	Protective	protective	Malaria, resistance to
RS9332959	MGST1	Protective	protective	Pulmonary disease, chronic obstructive
RS9632884	CDKN2B-AS1	Protective	protective	Three Vessel Coronary Disease, Three Vessel Coronary Disease
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	ALDH9A12 POLYMORPHISM, ALDH9A12 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

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