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
RS2476113679 MTTP Health Risk Likely pathogenic —
RS2476118093 MTTP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2476118133 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476118381 MTTP Health Risk Pathogenic —
RS2476124246 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476124425 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476126262 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476126352 MTTP Health Risk Pathogenic —
RS2476134780 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476134985 MTTP Health Risk Pathogenic —
RS2476136524 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS2476136571 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS2476136983 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2476138261 COL4A4 Health Risk Likely pathogenic COL4A4-related disorder, COL4A4-related disorder
RS2476139225 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS2476140169 COL4A4 Health Risk Likely pathogenic —
RS2476140446 ALB Health Risk Pathogenic —
RS2476141279 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476141442 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476141537 MTTP Health Risk Likely pathogenic MTTP-related disorder, MTTP-related disorder
RS2476141732 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476145104 MTTP Health Risk Pathogenic —
RS2476145662 MTTP Health Risk Likely pathogenic —
RS2476145822 MTTP Health Risk Pathogenic —
RS2476145911 MTTP Health Risk Pathogenic —
RS2476145943 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476146041 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476146079 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476149064 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476149238 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476149269 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476149431 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476157027 NFKB1 Health Risk Likely pathogenic —
RS2476158124 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476158333 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476161572 MTTP Health Risk Likely pathogenic —
RS2476161600 MTTP Health Risk Pathogenic —
RS2476178924 NFKB1 Health Risk Likely pathogenic NFKB1-related disorder, NFKB1-related disorder
RS2476179011 AIMP1 Health Risk Pathogenic —
RS2476179074 AIMP1 Health Risk Pathogenic —
RS2476199260 AIMP1 Health Risk Pathogenic —
RS2476200380 NFKB1 Health Risk Pathogenic —
RS2476200825 NFKB1 Health Risk Likely pathogenic —
RS2476203152 PPP3CA Health Risk Likely pathogenic PPP3CA-related disorder, PPP3CA-related disorder
RS2476203153 PPP3CA Health Risk Pathogenic —
RS2476210016 PPP3CA Health Risk Pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS2476210177 PPP3CA Health Risk Pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS2476210936 SCARB2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2476210999 SCARB2 Health Risk Likely pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2476213850 GABRA2 Health Risk Likely pathogenic —
RS2476220505 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2476228193 SCARB2 Health Risk Likely pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2476228297 SCARB2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2476235922 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2476237771 COL4A4 Health Risk Pathogenic —
RS2476238585 COL4A4 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Hematuria
RS2476240165 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS2476241131 COL4A4 Health Risk Pathogenic —
RS2476242345 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2476245865 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2476284377 SCARB2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2476297677 PPP3CA Health Risk Pathogenic —
RS2476318271 SCARB2 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS2476334676 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2476350193 NFKB1 Health Risk Likely pathogenic NFKB1-related disorder, NFKB1-related disorder
RS2476350261 NFKB1 Health Risk Pathogenic —
RS2476350553 NFKB1 Health Risk Pathogenic —
RS2476351116 NFKB1 Health Risk Pathogenic —
RS2476351129 NFKB1 Health Risk Pathogenic —
RS2476351160 NFKB1 Health Risk Pathogenic —
RS2476357331 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476357504 PKD2 Health Risk Pathogenic PKD2-related disorder, PKD2-related disorder
RS2476357618 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2476357791 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476357829 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476357872 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476357922 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476358222 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476358273 PKD2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2476358625 PKD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant polycystic kidney disease
RS2476358800 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2476402911 NFKB1 Health Risk Pathogenic —
RS2476404144 NFKB1 Health Risk Pathogenic —
RS2476410487 NDUFAF5 Health Risk Pathogenic —
RS2476415372 NFKB1 Health Risk Pathogenic —
RS2476415934 NFKB1 Health Risk Pathogenic —
RS2476416063 NFKB1 Health Risk Likely pathogenic —
RS2476425600 NFKB1 Health Risk Pathogenic —
RS2476435464 NFKB1 Health Risk Likely pathogenic —
RS2476435904 NFKB1 Health Risk Pathogenic —
RS2476436133 NFKB1 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2476439283 NDNF Health Risk Likely pathogenic Hypogonadotropic hypogonadism 25 with anosmia, Hypogonadotropic hypogonadism 25 with anosmia
RS2476445162 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476446609 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476446836 NFKB1 Health Risk Likely pathogenic —
RS2476446922 NFKB1 Health Risk Likely pathogenic NFKB1-related disorder, NFKB1-related disorder
RS2476455936 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476456020 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS2476456347 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2476456461 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
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