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
RS2474719433 COL4A4 Health Risk Pathogenic —
RS2474719709 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474719777 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS2474721255 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474721637 COL4A4 Health Risk Likely pathogenic —
RS2474724873 TP63 Health Risk Pathogenic Rapp-Hodgkin syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
RS2474726412 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2474744592 SLC34A2 Health Risk Pathogenic PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
RS2474746659 NSD2 Health Risk Pathogenic —
RS2474746861 NSD2 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474747856 OPA1 Health Risk Pathogenic Optic atrophy, Retinal dystrophy
RS2474751204 NSD2 Health Risk Pathogenic —
RS2474755725 SLC34A2 Health Risk Pathogenic PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
RS2474762078 NSD2 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474770136 PIGG Health Risk Likely pathogenic Intellectual disability, autosomal recessive 53
RS2474777637 SLC34A2 Health Risk Likely pathogenic PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
RS2474781315 NSD2 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2474786672 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2474787238 COL4A4 Health Risk Pathogenic —
RS2474788624 COL4A4 Health Risk Pathogenic —
RS2474788771 OPA1 Health Risk Pathogenic OPA1-related disorder, OPA1-related disorder
RS2474788860 OPA1 Health Risk Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2474793895 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2474808213 OPA1 Health Risk Pathogenic —
RS2474808745 OPA1 Health Risk Pathogenic —
RS2474809125 OPA1 Health Risk Pathogenic —
RS2474809356 OPA1 Health Risk Pathogenic —
RS2474814350 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474814375 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474814382 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474817028 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2474817220 OPA1 Health Risk Likely pathogenic —
RS2474817295 OPA1 Health Risk Pathogenic —
RS2474817307 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS2474817512 OPA1 Health Risk Pathogenic —
RS2474818099 OPA1 Health Risk Pathogenic —
RS2474818291 OPA1 Health Risk Likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS2474823203 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474823496 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474830777 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474836895 COL4A4 Health Risk Pathogenic —
RS2474843743 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS2474862679 OPA1 Health Risk Pathogenic —
RS2474862722 OPA1 Health Risk Pathogenic —
RS2474865823 OPA1 Health Risk Likely pathogenic Optic atrophy, Optic atrophy
RS2474871431 OPA1 Health Risk Likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS2474871913 OPA1 Health Risk Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2474872027 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2474872099 OPA1 Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS2474873974 OPA1 Health Risk Pathogenic —
RS2474874123 OPA1 Health Risk Likely pathogenic —
RS2474874374 OPA1 Health Risk Likely pathogenic Optic atrophy, Optic atrophy
RS2474874628 OPA1 Health Risk Pathogenic —
RS2474874709 OPA1 Health Risk Pathogenic —
RS2474881142 OPA1 Health Risk Pathogenic —
RS2474881420 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS2474882050 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2474882131 OPA1 Health Risk Pathogenic —
RS2474888258 PROM1 Health Risk Pathogenic —
RS2474888813 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2474888950 PIGG Health Risk Likely pathogenic Intellectual disability, autosomal recessive 53
RS2474889714 PIGG Health Risk Likely pathogenic —
RS2474890243 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474890363 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474890606 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474893506 PROM1 Health Risk Pathogenic —
RS2474904743 OPA1 Health Risk Likely pathogenic —
RS2474904757 OPA1 Health Risk Pathogenic —
RS2474909022 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474909050 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474920861 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2474921047 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome 9, Joubert syndrome 9
RS2474921160 CC2D2A Health Risk Likely pathogenic Joubert syndrome 9, Joubert syndrome 9
RS2474921234 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2474921607 OPA1 Health Risk Pathogenic —
RS2474922047 OPA1 Health Risk Pathogenic —
RS2474922093 OPA1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS2474930870 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2474932815 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2474933072 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2474933339 OPA1 Health Risk Pathogenic —
RS2474944725 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2474947769 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2474955144 CC2D2A Health Risk Likely pathogenic CC2D2A-related disorder, CC2D2A-related disorder
RS2474955188 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474955286 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474961706 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS2474962475 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS2474962598 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2474965141 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2474965222 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474965849 KLB Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS2474966060 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474978321 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474978426 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474978902 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474988370 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474988519 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2474989324 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2474990397 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
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