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
RS2112808989 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112809000 MSH3 Health Risk Pathogenic —
RS2112809006 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS2112812086 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112812114 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112812135 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112812178 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112812231 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112812386 MSH3 Health Risk Pathogenic —
RS2112813757 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112813769 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2112813876 MSH3 Health Risk Pathogenic —
RS2112814232 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112814246 MSH3 Health Risk Pathogenic —
RS2112814290 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112814306 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112814387 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS2112814388 SMN1 Health Risk Pathogenic Kugelberg-Welander disease, Kugelberg-Welander disease
RS2112815891 MSH3 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 4, Endometrial carcinoma
RS2112816043 MSH3 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS2112816134 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112816143 MSH3 Health Risk Pathogenic —
RS2112819157 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112819171 MSH3 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Familial adenomatous polyposis 4
RS2112820022 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS2112855504 MSH3 Health Risk Pathogenic —
RS2112855544 MSH3 Health Risk Pathogenic —
RS2112857805 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2112857813 MSH3 Health Risk Pathogenic/Likely pathogenic —
RS2112857873 MSH3 Health Risk Pathogenic —
RS2112866746 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112866803 MSH3 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Familial adenomatous polyposis 4
RS2112866857 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS2112868879 MSH3 Health Risk Pathogenic —
RS2112868948 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2112868963 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2112868967 MSH3 Health Risk Pathogenic —
RS2112879604 MSH3 Health Risk Pathogenic —
RS2112880063 MSH3 Health Risk Pathogenic —
RS2112880076 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2112884291 MSH3 Health Risk Pathogenic —
RS2112884587 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2112885230 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2112885246 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112885348 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS2112890103 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112890124 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2112890201 MSH3 Health Risk Pathogenic —
RS2112890224 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2113025862 THG1L Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2113025865 IL12B Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS2113041052 CYFIP2 Health Risk Conflicting classifications of pathogenicity —
RS2113059531 PROP1 Health Risk Pathogenic —
RS2113060683 PROP1 Health Risk Pathogenic —
RS2113064591 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS2113064700 PROP1 Health Risk Pathogenic —
RS2113077087 LSM11 Health Risk Pathogenic Aicardi-Goutieres syndrome 8, Aicardi-Goutieres syndrome 8
RS2113110720 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2113110795 FOXC1 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2113110837 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2113111009 FOXC1 Health Risk Pathogenic Anterior segment dysgenesis 3, Anterior segment dysgenesis 3
RS2113111101 FOXC1 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2113111289 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2113111322 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2113111355 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2113111662 FOXC1 Health Risk Pathogenic Anterior segment dysgenesis 3, Anterior segment dysgenesis 3
RS2113111766 FOXC1 Health Risk Likely pathogenic Anterior segment dysgenesis 3, Anterior segment dysgenesis 3
RS2113111795 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Structural eye disease
RS2113112422 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2113112720 FOXC1 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2113113584 FOXC1 Health Risk Likely pathogenic —
RS2113120213 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2113120242 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2113123881 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS2113154685 CYFIP2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 65
RS2113164095 LCP2 Health Risk Pathogenic Immunodeficiency 81, Immunodeficiency 81
RS2113176852 SGCD Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS2113177526 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2113184331 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS2113190301 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2113195147 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2113199896 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2113200020 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2113200198 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2113218754 ADAMTS2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2113223246 ADAMTS2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS2113228864 TFAP2A Health Risk Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS2113242469 GCM2 Health Risk Pathogenic Hypoparathyroidism, familial isolated
RS2113242520 GCM2 Health Risk Pathogenic Hypoparathyroidism, familial isolated
RS2113243235 GCM2 Health Risk Likely pathogenic Hyperparathyroidism 4, Hypoparathyroidism
RS2113257238 GCM2 Health Risk Likely pathogenic Hyperparathyroidism 4, Hyperparathyroidism 4
RS2113279864 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2113291833 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS2113293570 GABRA1 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Epilepsy
RS2113298764 GABRG2 Health Risk Pathogenic/Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113298770 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS2113298784 GABRG2 Health Risk Likely pathogenic Febrile seizures, familial
RS2113301331 NPM1 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2113301391 NPM1 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2113307162 GABRA1 Health Risk Likely pathogenic Idiopathic generalized epilepsy, Epilepsy
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