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
RS2535703298 PCLO Health Risk Pathogenic —
RS2535704000 PCLO Health Risk Pathogenic —
RS2535704229 KRIT1 Health Risk Pathogenic —
RS2535704686 KRIT1 Health Risk Pathogenic —
RS2535704764 KRIT1 Health Risk Likely pathogenic —
RS2535705221 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2535705254 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535705315 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535706177 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS2535706411 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535708847 PCLO Health Risk Pathogenic —
RS2535709534 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2535710122 PMS2 Health Risk Pathogenic Lynch syndrome 4, Mismatch repair cancer syndrome 4
RS2535710282 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS2535711117 PCLO Health Risk Pathogenic —
RS2535713122 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2535714080 PCLO Health Risk Pathogenic —
RS2535714534 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535715081 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535715463 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535715547 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535716202 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535716449 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535716674 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535716936 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535718053 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535719139 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535720768 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535722631 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2535722923 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535724230 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535724569 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535725121 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535726610 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535726892 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535727004 KRIT1 Health Risk Pathogenic KRIT1-related disorder, KRIT1-related disorder
RS2535727137 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2535727492 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535727506 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535728872 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535729030 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535729434 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535731339 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2535731868 IMPDH1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2535731890 IMPDH1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2535733260 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535736045 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2535738640 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2535739173 CD36 Health Risk Likely pathogenic CD36-related disorder, CD36-related disorder
RS2535744456 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535745578 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535746483 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2535746579 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535747032 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535748850 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2535751225 IMPDH1 Health Risk Pathogenic —
RS2535751690 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535753815 PMS2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS2535757044 DST Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2535758512 TBXAS1 Health Risk Likely pathogenic —
RS2535760285 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535761770 IMPDH1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2535764770 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2535766476 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2535768807 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2535770717 MYO6 Health Risk Pathogenic/Likely pathogenic Hearing impairment, Inborn genetic diseases
RS2535770989 MYO6 Health Risk Pathogenic —
RS2535772329 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS2535773926 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535775377 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2535782788 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS2535783217 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535783534 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535785321 SNX14 Health Risk Likely pathogenic —
RS2535788710 PMS2 Health Risk Likely pathogenic —
RS2535794203 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS2535794447 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535796635 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535806229 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535808559 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535810722 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2535811033 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535811461 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535811564 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2535814033 IMPDH1 Health Risk Pathogenic —
RS2535814752 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535815327 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535818146 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535818867 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535819055 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535820903 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535820956 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535823786 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2535825476 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2535825731 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535827000 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535830326 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535831699 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535832871 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535833397 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
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