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
RS2530291651 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2530298654 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2530303960 UBA5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 44
RS2530304011 UBA5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 44
RS2530309710 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530312249 ANKRD17 Health Risk Pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2530313245 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530313356 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530313399 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530315359 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2530316357 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530316392 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530316491 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530316549 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530316571 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530316618 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530316752 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530317186 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530317695 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530317763 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530318029 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530318204 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Endometrial carcinoma
RS2530318416 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530318697 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2530319288 MSH6 Health Risk Pathogenic Inherited MMR deficiency (Lynch syndrome), Inherited MMR deficiency (Lynch syndrome)
RS2530319597 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530319768 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530319897 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530319996 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530320026 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530320378 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530320822 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530321671 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530323486 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530325660 UBA5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 44
RS2530332377 UBA5 Health Risk Pathogenic —
RS2530334697 SCLT1 Health Risk Pathogenic —
RS2530351536 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530351729 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530358034 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2530360005 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530362767 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530362884 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530363576 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530363751 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530363834 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530368656 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2530368695 NAA15 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2530368724 NAA15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS2530368862 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530368885 PROM1 Health Risk Likely pathogenic —
RS2530371465 STAG1 Health Risk Pathogenic —
RS2530372155 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530372828 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530374916 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2530375232 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2530375400 NAA15 Health Risk Pathogenic —
RS2530376896 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS2530377308 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2530379124 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530379181 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530380429 NPHP3 Health Risk Likely pathogenic Renal-hepatic-pancreatic dysplasia 1, Renal-hepatic-pancreatic dysplasia 1
RS2530385906 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2530385996 NPHP3 Health Risk Likely pathogenic NPHP3-related disorder, NPHP3-related disorder
RS2530391608 NAA15 Health Risk Pathogenic/Likely pathogenic —
RS2530391766 NAA15 Health Risk Pathogenic —
RS2530392269 MED12L Health Risk Likely pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS2530394726 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2530394997 STAG1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 47
RS2530396115 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530396336 NAA15 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2530396366 NAA15 Health Risk Likely pathogenic —
RS2530397425 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530397518 NAA15 Health Risk Pathogenic —
RS2530398321 STAG1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 47
RS2530401396 NPHP3 Health Risk Likely pathogenic NPHP3-related disorder, NPHP3-related disorder
RS2530403226 SCLT1 Health Risk Pathogenic —
RS2530403268 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530411057 NAA15 Health Risk Pathogenic —
RS2530411068 NAA15 Health Risk Likely pathogenic —
RS2530411207 NAA15 Health Risk Pathogenic —
RS2530411290 NAA15 Health Risk Likely pathogenic —
RS2530415049 RPL35A Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 5
RS2530415161 RPL35A Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS2530415541 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2530418752 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2530418844 NAA15 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2530418866 NAA15 Health Risk Likely pathogenic NAA15-related disorder, NAA15-related disorder
RS2530418923 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530419555 PROM1 Health Risk Pathogenic —
RS2530421661 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530424559 FAT4 Health Risk Likely pathogenic FAT4-related disorder, FAT4-related disorder
RS2530428521 SCLT1 Health Risk Likely pathogenic —
RS2530429152 FAT4 Health Risk Pathogenic —
RS2530430943 RPL35A Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2530431138 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530431213 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530431324 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530431905 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530432845 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
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