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
RS2112094320 DNAJC21 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2112100020 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2112100189 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2112100217 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2112100310 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2112106462 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112106537 MSH3 Health Risk Pathogenic —
RS2112106551 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112106614 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112106687 MSH3 Health Risk Pathogenic —
RS2112106713 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS2112108878 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS2112108977 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2112118327 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112118578 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112128589 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS2112128704 CWC27 Health Risk Pathogenic —
RS2112128764 MSH3 Health Risk Pathogenic —
RS2112128814 MSH3 Health Risk Pathogenic —
RS2112129385 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS2112135868 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS2112150100 CERT1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 34
RS2112156345 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS2112156393 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112161191 CWC27 Health Risk Pathogenic —
RS2112169750 CWC27 Health Risk Likely pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
RS2112171738 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2112171931 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS2112174996 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112175171 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112175206 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112175228 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112177114 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112177192 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2112180571 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112180614 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112180705 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112180739 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112180944 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112180987 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS2112186316 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2112188865 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2112189087 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2112197421 PIK3R1 Health Risk Pathogenic SHORT syndrome, SHORT syndrome
RS2112207891 CWC27 Health Risk Pathogenic/Likely pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
RS2112211996 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112214898 CWC27 Health Risk Pathogenic —
RS2112222433 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112223281 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2112223340 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112223349 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112231793 MAP1B Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2112237964 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS2112238696 MAP1B Health Risk Pathogenic —
RS2112251301 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112251855 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112253467 PIK3R1 Health Risk Pathogenic Immunodeficiency 36 with lymphoproliferation, SHORT syndrome
RS2112260281 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS2112261986 PIK3R1 Health Risk Likely pathogenic Immunodeficiency 36 with lymphoproliferation, SHORT syndrome
RS2112275093 ZSWIM6 Health Risk Conflicting classifications of pathogenicity —
RS2112276825 PIK3R1 Health Risk Likely pathogenic See cases, See cases
RS2112277098 PIK3R1 Health Risk Likely pathogenic CLOVES syndrome, CLOVES syndrome
RS2112278418 PIK3R1 Health Risk Likely pathogenic PIK3R1-related disorder, PIK3R1-related disorder
RS2112279054 OXCT1 Health Risk Pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS2112279505 OXCT1 Health Risk Pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS2112294273 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with movement abnormalities, abnormal gait
RS2112300864 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2112308448 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS2112308481 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS2112308599 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112308910 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112309156 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112320552 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, SKIC3-related disorder
RS2112327948 SKIC3 Health Risk Pathogenic —
RS2112328709 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112329234 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112331217 SKIC3 Health Risk Pathogenic —
RS2112339517 SKIC3 Health Risk Pathogenic —
RS2112343388 CWC27 Health Risk Pathogenic —
RS2112344385 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS2112344793 SKIC3 Health Risk Pathogenic —
RS2112346642 SKIC3 Health Risk Pathogenic —
RS2112357253 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2112365844 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112366112 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112366158 RASA1 Health Risk Pathogenic —
RS2112369549 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112369561 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112376248 SKIC3 Health Risk Pathogenic —
RS2112377756 LIFR Health Risk Pathogenic —
RS2112393633 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Congenital anomaly of kidney and urinary tract
RS2112412398 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112416721 LIFR Health Risk Pathogenic —
RS2112416850 LIFR Health Risk Pathogenic —
RS2112419752 PCSK1 Health Risk Pathogenic Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS2112421532 RASA1 Health Risk Pathogenic —
RS2112421707 RASA1 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2112422226 PCSK1 Health Risk Pathogenic/Likely pathogenic —
RS2112427637 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112430367 LIFR Health Risk Pathogenic —
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