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
RS1761360431 NKX2-5 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS1761365087 CCNH;RASA1 Health Risk Pathogenic —
RS1761374435 NKX2-5 Health Risk Likely pathogenic Hypothyroidism, congenital
RS1761390378 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS1761398209 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1761398393 GABRG2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 74
RS1761430125 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS1761434175 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS1761438700 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS1761439785 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1761468673 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1761469547 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1761469644 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1761473113 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1761473319 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS1761580770 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS1761614594 CAST Health Risk Pathogenic —
RS1761617556 GABRG2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 74
RS1761620237 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1761673797 DCDC2 Health Risk Likely pathogenic Isolated neonatal sclerosing cholangitis, Isolated neonatal sclerosing cholangitis
RS1761726567 NSD1 Health Risk Likely pathogenic —
RS1761728622 NSD1 Health Risk Likely pathogenic —
RS1761749097 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, DOCK2 deficiency
RS1761749684 MEF2C Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1761754747 BMP6 Health Risk risk factor Iron overload, susceptibility to
RS1761796594 ADGRV1 Health Risk Likely pathogenic —
RS1761818173 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1761822790 KCNN2 Health Risk Pathogenic Moderate intellectual disability, Global developmental delay
RS1761825165 KCNN2 Health Risk Likely pathogenic Moderate intellectual disability, Global developmental delay
RS1761890567 TFAP2A Health Risk Conflicting classifications of pathogenicity Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1761904420 KDM3B Health Risk Pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1761904690 PRPH2 Health Risk Pathogenic Retinal dystrophy, PRPH2-related disorder
RS1761906682 PRPH2 Health Risk Likely pathogenic Retinitis pigmentosa 7, Retinitis pigmentosa 7
RS1761907993 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, PRPH2-related disorder
RS1761908297 PRPH2 Health Risk Pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS1761908800 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1761910060 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, Retinal dystrophy
RS1761911206 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, Retinitis pigmentosa
RS1761913048 PRPH2 Health Risk Pathogenic/Likely pathogenic Stargardt disease, PRPH2-related disorder
RS1761913253 PRPH2 Health Risk Pathogenic Stargardt disease, PRPH2-related disorder
RS1761913693 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1761914145 PRPH2 Health Risk Pathogenic Central areolar choroidal dystrophy, Choroidal dystrophy
RS1761915143 PRPH2 Health Risk Likely pathogenic Adult-onset foveomacular vitelliform dystrophy, Retinal dystrophy
RS1761915366 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1761916286 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1761917286 PRPH2 Health Risk Pathogenic Stargardt disease, PRPH2-related disorder
RS1761917626 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1761918414 PRPH2 Health Risk Likely pathogenic —
RS1761921113 PRPH2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1761921867 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Retinal dystrophy
RS1761930554 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1761968190 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1761973773 FLT4 Health Risk Likely pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS1761994695 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1762025160 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1762027044 ADGRV1 Health Risk Pathogenic/Likely pathogenic Febrile seizures, familial
RS1762035826 ADGRV1 Health Risk Pathogenic —
RS1762047599 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1762078360 KDM3B Health Risk Pathogenic —
RS1762091435 CTNNA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1762093946 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS1762094766 PPP2R5D Health Risk Pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS1762098966 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 1, Cardiovascular phenotype
RS1762099168 RASA1 Health Risk Pathogenic Basal cell carcinoma, susceptibility to
RS1762111 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS1762114658 CTNNA1 Health Risk Pathogenic Polyposis syndrome, hereditary mixed
RS1762119351 BLTP1 Health Risk Pathogenic —
RS1762121275 BLTP1 Health Risk Pathogenic —
RS1762133912 CTNNA1 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1762135444 PPP2R5D Health Risk Likely pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS1762136390 PPP2R5D Health Risk Conflicting classifications of pathogenicity Hogue-Janssens syndrome 1, Genetic developmental and epileptic encephalopathy
RS1762138459 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1762178779 PPP2R5D Health Risk Conflicting classifications of pathogenicity Intellectual disability, Hogue-Janssens syndrome 1
RS1762178916 PPP2R5D Health Risk Conflicting classifications of pathogenicity Hogue-Janssens syndrome 1, Inborn genetic diseases
RS1762257015 KDM3B Health Risk Pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1762258987 SLC12A2 Health Risk Pathogenic Kilquist syndrome, Kilquist syndrome
RS1762317272 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Hereditary hemorrhagic telangiectasia
RS1762326343 ADGRV1 Health Risk Pathogenic —
RS1762335528 FLT4 Health Risk Likely pathogenic Hereditary lymphedema type I, Capillary infantile hemangioma
RS1762350550 ADGRV1 Health Risk Pathogenic —
RS1762375256 ADGRV1 Health Risk Pathogenic —
RS1762404363 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1762417302 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1762431806 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1762460445 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1762470883 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1762477174 KDM3B Health Risk Likely pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS1762519001 FOXC1 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS1762521548 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1762522833 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1762523183 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1762525428 FOXC1 Health Risk Pathogenic —
RS1762525473 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1762526126 FOXC1 Health Risk Pathogenic Anterior segment dysgenesis, Anterior segment dysgenesis
RS1762526692 FOXC1 Health Risk Likely pathogenic Anterior segment dysgenesis, Anterior segment dysgenesis
RS1762534303 FOXC1 Health Risk Pathogenic Glaucoma of childhood, Glaucoma of childhood
RS1762534894 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1762536800 FOXC1 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1762543434 NEU1 Health Risk Conflicting classifications of pathogenicity Sialidosis type 2, Sialidosis type 2
RS1762546257 NEU1 Health Risk Pathogenic —
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