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
RS2110954936 NAA15 Health Risk Likely pathogenic —
RS2110955293 NAA15 Health Risk Likely pathogenic See cases, See cases
RS2110956953 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2110957137 NAA15 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 50
RS2110959790 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2110960030 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2110977229 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2110977312 NAA15 Health Risk Likely pathogenic See cases, See cases
RS2110977610 NAA15 Health Risk Pathogenic/Likely pathogenic —
RS2111007067 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2111009771 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2111013260 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2111013273 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2111013293 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2111015862 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2111015936 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2111021475 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2111021738 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2111022003 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS2111031951 LRAT Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2111032416 LRAT Health Risk Pathogenic Abnormality of the eye, Leber congenital amaurosis 14
RS2111032650 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2111032788 LRAT Health Risk Pathogenic —
RS2111038250 LRAT Health Risk Likely pathogenic —
RS2111065159 TRAPPC11 Health Risk Likely pathogenic —
RS2111067026 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2111067418 RAB33B Health Risk Pathogenic Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS2111067546 LOC129993110;RAB33B Health Risk Pathogenic —
RS2111067574 LOC129993110;RAB33B Health Risk Pathogenic —
RS2111068100 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2111068286 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2111087458 RAB33B Health Risk Pathogenic Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS2111234 NOD2 Health Risk Uncertain risk allele Leprosy, susceptibility to
RS2111335168 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2111348673 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2111348918 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2111354717 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2111362314 NDUFS6 Health Risk Likely pathogenic —
RS2111363477 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS2111364865 NDUFS6 Health Risk Likely pathogenic —
RS2111364901 NDUFS6 Health Risk Pathogenic —
RS2111571890 C7 Health Risk Likely pathogenic —
RS2111579916 C7 Health Risk Pathogenic —
RS2111585708 IL6ST Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
RS2111585826 IL6ST Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
RS2111587824 IL6ST Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
RS2111600452 C7 Health Risk Pathogenic —
RS2111637536 C7 Health Risk Pathogenic —
RS2111677373 IL6ST Health Risk Pathogenic Stuve-Wiedemann syndrome 2, Stuve-Wiedemann syndrome 2
RS2111702150 MCIDAS Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2111713642 CCNO Health Risk Pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
RS2111731768 C7 Health Risk Pathogenic —
RS2111774223 IL6ST Health Risk Pathogenic Immunodeficiency 94 with autoinflammation and dysmorphic facies, Immunodeficiency 94 with autoinflammation and dysmorphic facies
RS2111818610 GHR Health Risk Pathogenic —
RS2111832452 GHR Health Risk Likely pathogenic See cases, See cases
RS2111835976 C9 Health Risk Pathogenic Complement component 9 deficiency, Complement component 9 deficiency
RS2111836553 C9 Health Risk Pathogenic —
RS2111839421 HCN1 Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS2111840582 NPR3 Health Risk Pathogenic Boudin-Mortier syndrome, Boudin-Mortier syndrome
RS2111857806 LMBRD2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2111857835 LMBRD2 Health Risk Pathogenic/Likely pathogenic Developmental delay with variable neurologic and brain abnormalities, Neurodevelopmental disorder
RS2111876683 C9 Health Risk Pathogenic —
RS2111887398 C9 Health Risk Pathogenic —
RS2111893851 MAP1B Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2111894733 MAP1B Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2111894757 MAP1B Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2111907902 LMBRD2 Health Risk Pathogenic/Likely pathogenic Developmental delay with variable neurologic and brain abnormalities, LMBRD2-related disorder
RS2111911679 LMBRD2 Health Risk Likely pathogenic Developmental delay with variable neurologic and brain abnormalities, Developmental delay with variable neurologic and brain abnormalities
RS2111935997 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS2111939767 FGF10 Health Risk Pathogenic —
RS2111960756 KIF2A Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2111962512 SLC45A2 Health Risk Pathogenic —
RS2112007724 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112007877 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112007970 MSH3 Health Risk Pathogenic —
RS2112007993 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS2112020238 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112020385 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112024354 DNAJC21 Health Risk Pathogenic Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS2112026621 MSH3 Health Risk Likely pathogenic —
RS2112026672 MSH3 Health Risk Pathogenic —
RS2112026812 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS2112026860 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112026895 MSH3 Health Risk Likely pathogenic —
RS2112031854 HCN1 Health Risk Pathogenic Febrile seizure (within the age range of 3 months to 6 years), Seizure
RS2112032137 HCN1 Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS2112039335 DNAJC21 Health Risk Pathogenic Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS2112040618 HCN1 Health Risk Likely pathogenic —
RS2112040633 HCN1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS2112040676 HCN1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS2112040690 HCN1 Health Risk Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS2112040707 HCN1 Health Risk Likely pathogenic —
RS2112040738 HCN1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS2112054145 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2112054380 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112054627 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2112081965 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS2112084395 MOCS2 Health Risk Pathogenic —
RS2112090886 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS2112093130 CERT1 Health Risk Pathogenic —
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