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
RS1346664920 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Inborn genetic diseases
RS1346688931 CDC42BPB Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1346690922 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, CEP290-related ciliopathy
RS1346691984 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1346698280 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1346704603 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1346705436 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1346707834 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1346712530 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, permanent neonatal 3
RS1346714219 GGCX Health Risk Pathogenic —
RS1346714603 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1346716044 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1346719880 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1346732190 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1346748926 INPP5E Health Risk Pathogenic Joubert syndrome, INPP5E-related disorder
RS1346775255 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1346778409 MYH7 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy 1
RS1346787374 GUCA1ANB-GUCA1A;GUCA1A Health Risk Conflicting classifications of pathogenicity Cone dystrophy 3, Cone dystrophy 3
RS1346819781 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS1346829948 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1346842287 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS1346847201 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1346882502 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1346929384 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1346946485 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1346954123 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1346965647 CDHR1 Health Risk Pathogenic Cone-rod dystrophy 15, Retinal dystrophy
RS1346974204 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1346976662 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS1346981294 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1346981321 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS1347006212 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS1347033062 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1347035611 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1347044526 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1347050404 GLI3 Health Risk Pathogenic —
RS1347055289 NCSTN Health Risk Pathogenic Acne inversa, familial
RS1347076714 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1347078601 TAOK1 Health Risk Conflicting classifications of pathogenicity See cases, Neurodevelopmental disorder
RS1347083065 ARL2BP Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1347137461 CEACAM16 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 4B, Autosomal dominant nonsyndromic hearing loss 4B
RS1347163319 INSR Health Risk Pathogenic —
RS1347176614 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1347178549 GBA2 Health Risk Likely pathogenic Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46
RS1347205213 LSS Health Risk Pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
RS1347208359 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1347210621 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1347223331 TRAPPC6B Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, epilepsy
RS1347224658 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS1347233847 ABCC2 Health Risk Pathogenic —
RS1347239469 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1347261858 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 19, Retinitis pigmentosa
RS1347266016 MPDZ Health Risk Pathogenic —
RS1347277368 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1347285757 EEF1D Health Risk Likely pathogenic Myelodysplastic syndrome associated with isolated del(5q), Myelodysplastic syndrome associated with isolated del(5q)
RS1347287232 IMPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1347290964 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, ALMS1-related disorder
RS1347292940 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS1347299046 FOXP2 Health Risk Pathogenic Childhood apraxia of speech, Childhood apraxia of speech
RS1347299632 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1347367555 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1347382107 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS1347387231 BCL11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1347400457 MCM3AP Health Risk Conflicting classifications of pathogenicity —
RS1347407918 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1347407994 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8
RS1347415564 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1347416980 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS1347418307 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1347420106 POLG2 Health Risk Pathogenic —
RS1347421419 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1347459118 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1347461335 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1347473020 INSR Health Risk Conflicting classifications of pathogenicity INSR-related disorder, INSR-related disorder
RS1347498294 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1347533994 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1347535436 POLE Health Risk Pathogenic —
RS1347597816 TRIM37 Health Risk Likely pathogenic —
RS1347601186 PRODH Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS1347618037 AP3B2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 48
RS1347629116 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1347648325 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1347651454 CBS Health Risk Pathogenic Homocystinuria, Familial thoracic aortic aneurysm and aortic dissection
RS1347662650 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1347669124 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1347692516 CERKL Health Risk Pathogenic —
RS1347694586 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS1347697507 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1347701279 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, See cases
RS1347714754 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1347724154 PAX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1347730847 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1347740802 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1347754955 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1347758423 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1347764887 SIN3A Health Risk Likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS1347776232 CFTR Health Risk Likely pathogenic —
RS1347798617 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1347825753 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1347843810 DNAH9 Health Risk Pathogenic —
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