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
RS1554049422 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
RS1554049816 RASA1 Health Risk Pathogenic —
RS1554049825 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1554049882 RASA1 Health Risk Pathogenic —
RS1554050112 SKIC3 Health Risk Likely pathogenic —
RS1554050230 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS1554050342 CPLANE1 Health Risk Pathogenic —
RS1554050517 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554050584 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS1554050960 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS1554051033 PIK3R1 Health Risk Pathogenic Immunodeficiency 36 with lymphoproliferation, Immunodeficiency 36 with lymphoproliferation
RS1554051067 PIK3R1 Health Risk Pathogenic Immunodeficiency 36 with lymphoproliferation, Immunodeficiency 36 with lymphoproliferation
RS1554051075 PIK3R1 Health Risk Pathogenic Immunodeficiency 36 with lymphoproliferation, SHORT syndrome
RS1554051094 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
RS1554051161 PIK3R1 Health Risk Likely pathogenic —
RS1554051268 PIK3R1 Health Risk Likely pathogenic —
RS1554053289 NEK1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1554054155 TRIO Health Risk Likely pathogenic —
RS1554054827 MAP1B Health Risk Likely pathogenic Periventricular nodular heterotopia, Periventricular nodular heterotopia
RS1554054831 MAP1B Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia, Periventricular nodular heterotopia 9
RS1554054880 MAP1B Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia, Periventricular nodular heterotopia 9
RS1554055106 MAP1B Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia, Periventricular nodular heterotopia 9
RS1554058577 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554059248 NDUFS4 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1554059320 RICTOR Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554059454 BLTP1 Health Risk Pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1554059509 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554059550 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1554059573 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1554059974 MAB21L2 Health Risk Likely pathogenic —
RS1554060168 NDUFS4 Health Risk Likely pathogenic —
RS1554062097 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1554062168 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554062343 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1554062352 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1554062427 NDUFS4 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1554062562 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1554062588 TRIO Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554062741 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1554062789 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1554062804 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1554062814 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554063600 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1554063656 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1554063934 ADGRV1 Health Risk Pathogenic —
RS1554064083 HSD17B4 Health Risk Likely pathogenic Abnormality of the nervous system, Lung cancer
RS1554064102 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS1554064175 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1554064737 TRIO Health Risk Pathogenic —
RS1554064740 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1554064863 TRIO Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554064929 TLR3 Health Risk risk factor Immunodeficiency 83, susceptibility to viral infections
RS1554065254 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554065670 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554065671 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1554065887 TRIO Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Inborn genetic diseases
RS1554065893 TRIO Health Risk Pathogenic —
RS1554066045 MSH3 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Endometrial carcinoma
RS1554066077 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554066080 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1554066397 SMN1 Health Risk Likely pathogenic Spinal muscular atrophy, type II
RS1554066421 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554066659 SMN1 Health Risk Pathogenic/Likely pathogenic Kugelberg-Welander disease, Kugelberg-Welander disease
RS1554066666 SMN1 Health Risk Conflicting classifications of pathogenicity Spinal muscular atrophy, type II
RS1554066684 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1554067009 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1554067104 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554067106 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS1554067124 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554067141 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1554067157 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554067164 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554067166 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554067182 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1554068134 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554068136 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1554068272 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554068426 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1554068529 TRIO Health Risk Pathogenic/Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1554068790 CPLANE1 Health Risk Pathogenic —
RS1554068885 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS1554068960 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554069481 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554069524 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1554069549 APC Health Risk Pathogenic Carcinoma of colon, Familial adenomatous polyposis 1
RS1554069570 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1554069573 APC Health Risk Likely pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1554069592 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554069610 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1554069655 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069660 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069661 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069668 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069669 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069710 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Neoplasm
RS1554069775 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069786 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069791 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069793 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1554069805 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
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