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
RS2528740086 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528740117 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528740212 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528740235 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528740269 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528740277 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528740306 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528740471 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528742818 AGXT Health Risk Likely pathogenic —
RS2528742910 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528742931 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528742947 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528744114 AGXT Health Risk Likely pathogenic —
RS2528744408 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS2528744495 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528744521 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528744782 AGXT Health Risk Pathogenic —
RS2528744859 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS2528747575 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528748371 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528748953 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528749097 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528749129 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS2528749626 AGXT Health Risk Pathogenic —
RS2528749663 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528749665 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS2528749754 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528749898 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528749940 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528750839 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528751087 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528751309 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528751586 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528751739 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2528752106 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528753115 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528753200 AGXT Health Risk Pathogenic —
RS2528753217 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528753308 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528753326 AGXT Health Risk Pathogenic —
RS2528753327 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528753335 AGXT Health Risk Pathogenic —
RS2528753984 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS2528754380 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS2528754530 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528754604 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528754713 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528754973 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528755898 LARS2 Health Risk Pathogenic —
RS2528755914 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528755991 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528756014 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528756053 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS2528756084 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528756219 AGXT Health Risk Pathogenic —
RS2528756250 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528756764 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2528756925 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528757801 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528758264 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528758305 PI4KB Health Risk Pathogenic Hearing loss, autosomal dominant 87
RS2528758339 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS2528758393 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528758415 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528758487 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528758651 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528758741 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528760002 NBAS Health Risk Likely pathogenic —
RS2528762183 AGXT Health Risk Pathogenic —
RS2528762537 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528764075 AGXT Health Risk Pathogenic —
RS2528764137 AGXT Health Risk Pathogenic —
RS2528764378 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528766258 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528766265 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528766345 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528766485 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528766539 AGXT Health Risk Pathogenic —
RS2528766716 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS2528777422 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2528780273 ACBD6 Health Risk Pathogenic Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities
RS2528783505 METTL5 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 72
RS2528784290 METTL5 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 72
RS2528785092 ABHD5 Health Risk Likely pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS2528785198 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS2528785565 ABHD5 Health Risk Likely pathogenic —
RS2528785906 NBAS Health Risk Likely pathogenic —
RS2528786590 CACNA1E Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 69
RS2528786778 METTL5 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 72
RS2528802018 TRAPPC12 Health Risk Likely pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS2528806737 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2528806832 LARS2 Health Risk Pathogenic —
RS2528811007 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2528816473 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2528822984 PPP1R21 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS2528828282 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528828557 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528828762 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528828987 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528829152 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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