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
RS2041137663 PYCR1 Health Risk Likely pathogenic —
RS2041137887 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2041138210 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2041138762 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041140122 PYCR1 Health Risk Likely pathogenic PYCR1-related de Barsy syndrome, Autosomal recessive cutis laxa type 2B
RS2041140884 MAP2K2 Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 4, RASopathy
RS2041142587 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiofaciocutaneous syndrome 4
RS2041143697 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2041147607 SETD5 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2041149106 SETD5 Health Risk Pathogenic —
RS2041155203 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041155591 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041156486 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041157397 PYCR1 Health Risk Likely pathogenic Wiedemann-Rautenstrauch-like progeroid syndrome, Wiedemann-Rautenstrauch-like progeroid syndrome
RS2041157497 PYCR1 Health Risk Likely pathogenic Autosomal recessive cutis laxa type 2B, Autosomal recessive cutis laxa type 2B
RS2041199779 SLC12A1 Health Risk Likely pathogenic Bartter syndrome, Bartter syndrome
RS2041206341 SLC12A1 Health Risk Likely pathogenic —
RS2041207320 PYCR1 Health Risk Pathogenic Autosomal recessive cutis laxa type 2B, PYCR1- related autosomal recessive cutis laxa
RS2041210221 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041210282 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041230041 OCA2 Health Risk Pathogenic —
RS2041233118 OCA2 Health Risk Likely pathogenic Oculocutaneous albinism, Oculocutaneous albinism
RS2041233832 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2041247681 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041251614 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2041254879 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041255686 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041269564 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS2041270139 MYH11 Health Risk Likely pathogenic —
RS2041271232 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041271608 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041294652 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041303734 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2041306355 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2041306808 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2041309291 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2041310524 SETD5 Health Risk Pathogenic —
RS2041311648 SETD5 Health Risk Pathogenic —
RS2041315307 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2041316219 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2041316956 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041318487 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041326700 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041368952 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041370929 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2041376679 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2041379399 SETD5 Health Risk Likely pathogenic —
RS2041379870 SETD5 Health Risk Likely pathogenic Chromatinopathy, Chromatinopathy
RS2041380175 SETD5 Health Risk Pathogenic —
RS2041416610 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS2041433287 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Thyroid cancer
RS2041472207 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS2041490074 TMTC3 Health Risk Pathogenic Lissencephaly 8, Lissencephaly 8
RS2041525028 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS2041526018 OCA2 Health Risk Pathogenic —
RS2041559629 SLC12A1 Health Risk Pathogenic —
RS2041597805 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2041613817 DMXL2 Health Risk Likely pathogenic —
RS2041614157 NALCN Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS2041615714 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2041622931 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2041634150 TRIP12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2041642562 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2041650191 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS2041679279 PIEZO2 Health Risk Likely pathogenic Gordon syndrome, Gordon syndrome
RS2041684401 PIBF1 Health Risk Likely pathogenic Joubert syndrome 33, Joubert syndrome 33
RS2041696318 TRPM3 Health Risk Likely pathogenic —
RS2041698726 MAST3 Health Risk Pathogenic Developmental and epileptic encephalopathy 108, Developmental and epileptic encephalopathy 108
RS2041700760 CREB3L3 Health Risk Likely pathogenic —
RS2041729565 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2041767822 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2041767936 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2041768572 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2041772144 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2041773742 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2041774244 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS2041797086 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS2041802189 POLE Health Risk Likely pathogenic —
RS2041818115 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2041823623 POLE Health Risk Pathogenic —
RS2041824025 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2041825246 POLE Health Risk Pathogenic Intrauterine growth retardation, metaphyseal dysplasia
RS2041825753 POLE Health Risk Pathogenic —
RS2041834385 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS2041840084 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2041848486 ALDH1A3;ALDH1A3-AS1 Health Risk Pathogenic Microphthalmia, Microphthalmia
RS2041850053 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2041850171 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Neurodevelopmental abnormality
RS2041854606 SETD5 Health Risk Pathogenic —
RS2041856807 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2041898606 FRMPD4 Health Risk Likely pathogenic Intellectual disability, X-linked 104
RS2041899970 FRMPD4 Health Risk Likely pathogenic Intellectual disability, X-linked 104
RS2041910387 PSMD12 Health Risk Pathogenic —
RS2041937196 TRIP12 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2041946364 PSMD12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2041951083 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2041952899 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2041953300 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2041967070 ABCA7 Health Risk Likely pathogenic ABCA7-related disorder, ABCA7-related disorder
RS2041974262 PSMD12 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
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