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
RS2530433517 NPHP3 Health Risk Likely pathogenic NPHP3-related disorder, NPHP3-related disorder
RS2530433535 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530433595 NPHP3 Health Risk Likely pathogenic Renal-hepatic-pancreatic dysplasia 1, Renal-hepatic-pancreatic dysplasia 1
RS2530434287 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530434436 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530434648 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS2530434826 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530435054 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2530435300 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530435540 MSH6 Health Risk Pathogenic —
RS2530436136 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530436389 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530436558 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530436894 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530436946 FAT4 Health Risk Pathogenic —
RS2530438233 NPHP3 Health Risk Likely pathogenic Fibrotic kidney disease, Fibrotic kidney disease
RS2530438512 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2530438548 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530439147 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530439801 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530440150 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530440256 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530441464 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS2530441677 NAA15 Health Risk Pathogenic —
RS2530441729 NAA15 Health Risk Pathogenic —
RS2530446944 FAT4 Health Risk Pathogenic —
RS2530449928 SCLT1 Health Risk Pathogenic —
RS2530451837 FAT4 Health Risk Pathogenic —
RS2530452986 STAG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS2530455248 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 3
RS2530461749 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Nonpapillary renal cell carcinoma
RS2530461777 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530462164 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530462882 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530464195 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2530464286 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2530464633 NAA15 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2530464721 NAA15 Health Risk Pathogenic —
RS2530464820 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530464909 NAA15 Health Risk Likely pathogenic —
RS2530480700 NAA15 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2530480727 NAA15 Health Risk Likely pathogenic —
RS2530484935 NAA15 Health Risk Likely pathogenic NAA15-related disorder, NAA15-related disorder
RS2530484956 NAA15 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2530484965 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
RS2530496903 NPHP3 Health Risk Pathogenic NPHP3-related Meckel-like syndrome, Nephronophthisis 3
RS2530497522 SCLT1 Health Risk Likely pathogenic —
RS2530497837 SCLT1 Health Risk Pathogenic —
RS2530508103 STAG1 Health Risk Likely pathogenic —
RS2530508699 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530508755 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530509776 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530510478 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530512454 USP53 Health Risk Likely pathogenic —
RS2530512499 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2530515133 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2530515340 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530515681 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530515702 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2530516444 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530517488 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530517848 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2530518211 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530519193 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530519568 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530520168 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530520297 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530521916 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530522078 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2530522575 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530522907 NPHP3 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 1, Renal-hepatic-pancreatic dysplasia 1
RS2530523339 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530523814 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2530524190 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530524372 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530524640 MSH6 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2530524918 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530525965 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2530527267 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2530538343 NR3C2 Health Risk Pathogenic/Likely pathogenic NR3C2-related disorder, Cervical cancer
RS2530539414 NR3C2 Health Risk Likely pathogenic —
RS2530560048 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530562874 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530562901 WDFY3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2530563560 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530563838 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530564110 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530564564 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530564953 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Endometrial carcinoma
RS2530565247 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530565991 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530566074 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2530566174 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS2530566457 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530566605 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530566706 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530566900 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2530567441 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530569236 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2530569301 MSH6 Health Risk Pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
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