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
RS2112431809 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112437401 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112437820 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112438432 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112440626 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS2112442370 CWC27 Health Risk Pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
RS2112443938 LIFR Health Risk Pathogenic —
RS2112443985 LIFR Health Risk Pathogenic —
RS2112444143 LIFR Health Risk Likely pathogenic —
RS2112449032 VCAN Health Risk Pathogenic —
RS2112453728 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112456363 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112457150 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112457520 LIFR Health Risk Pathogenic —
RS2112457636 LIFR Health Risk Pathogenic/Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2112459497 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2112460011 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112462051 LIFR Health Risk Pathogenic —
RS2112463671 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112463755 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS2112467862 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112468012 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112469361 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS2112470883 LIFR Health Risk Pathogenic —
RS2112471375 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS2112474795 RASA1 Health Risk Pathogenic Capillary infantile hemangioma, Capillary infantile hemangioma
RS2112474880 RASA1 Health Risk Pathogenic See cases, See cases
RS2112477601 GHR Health Risk Likely pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS2112483439 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112484806 RASA1 Health Risk Pathogenic —
RS2112484882 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112485022 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS2112485870 ERCC8 Health Risk Pathogenic —
RS2112486988 RASA1 Health Risk Pathogenic Angioosteohypertrophic syndrome, Angioosteohypertrophic syndrome
RS2112486996 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112487030 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2112490719 RASA1 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112490726 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112491212 ERCC8 Health Risk Pathogenic/Likely pathogenic ERCC8-related disorder, Cockayne syndrome
RS2112491551 LIFR Health Risk Likely pathogenic —
RS2112491568 LIFR Health Risk Likely pathogenic —
RS2112492062 CCNH;RASA1 Health Risk Pathogenic —
RS2112492304 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112492912 ERCC8 Health Risk Pathogenic —
RS2112495236 ERCC8 Health Risk Pathogenic —
RS2112495246 ERCC8 Health Risk Pathogenic —
RS2112495582 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112495617 RASA1 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
RS2112495772 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112498297 LIFR Health Risk Likely pathogenic —
RS2112499273 VCAN Health Risk Pathogenic —
RS2112500780 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112500793 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2112509032 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
RS2112513256 CCNH;RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2112516716 ERCC8 Health Risk Pathogenic —
RS2112517213 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation 1
RS2112517308 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112518616 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2112522829 ERCC8 Health Risk Pathogenic Abnormality of the nervous system, Cockayne syndrome type 1
RS2112522943 ERCC8 Health Risk Pathogenic UV-sensitive syndrome 2, Cockayne syndrome type 1
RS2112525375 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2112529559 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112530008 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112530498 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112532297 ERCC8 Health Risk Pathogenic —
RS2112532350 ERCC8 Health Risk Pathogenic/Likely pathogenic —
RS2112564371 LIFR Health Risk Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2112564806 LIFR Health Risk Likely pathogenic —
RS2112564811 LIFR Health Risk Likely pathogenic —
RS2112580593 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112582627 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112583121 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112583680 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112617391 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS2112768333 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2112768468 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2112794702 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2112797412 MSH3 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS2112797490 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112797887 MSH3 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2112798504 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS2112798603 MSH3 Health Risk Pathogenic —
RS2112798778 MSH3 Health Risk Likely pathogenic —
RS2112801785 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112801912 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2112802656 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2112802725 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, See cases
RS2112804344 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2112804365 ALDH7A1 Health Risk Pathogenic —
RS2112806309 SMN1 Health Risk Pathogenic Spinal muscular atrophy, Spinal muscular atrophy
RS2112806512 SMN1 Health Risk Pathogenic Spinal muscular atrophy, Werdnig-Hoffmann disease
RS2112808726 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112808731 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112808747 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS2112808805 MSH3 Health Risk Pathogenic —
RS2112808820 MSH3 Health Risk Pathogenic —
RS2112808839 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112808889 MSH3 Health Risk Pathogenic —
RS2112808916 MSH3 Health Risk Pathogenic —
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