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
RS2535833647 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535836662 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2535841923 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2535843816 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535844060 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary nonpolyposis colon cancer
RS2535854030 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2535858137 DYNC2I1 Health Risk Pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS2535858456 DYNC2I1 Health Risk Likely pathogenic DYNC2I1-related disorder, DYNC2I1-related disorder
RS2535864023 MDH2 Health Risk Pathogenic —
RS2535864434 DST Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2535869499 MDH2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2535869544 MDH2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2535869981 IMPG1 Health Risk Likely pathogenic —
RS2535871479 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535871507 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535872041 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535873179 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535876276 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2535880664 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535880725 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535880745 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535880796 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535882559 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535885308 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535886252 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535886590 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535887104 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535887119 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535887324 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535887383 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535887580 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535889381 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535890221 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535891336 SHH Health Risk Pathogenic See cases, See cases
RS2535891899 SHH Health Risk Pathogenic See cases, See cases
RS2535892114 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Holoprosencephaly 3
RS2535892639 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Holoprosencephaly 3
RS2535893849 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS2535893958 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Solitary median maxillary central incisor syndrome
RS2535894151 SHH Health Risk Likely pathogenic —
RS2535894330 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Holoprosencephaly 3
RS2535894339 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS2535894379 SHH Health Risk Conflicting classifications of pathogenicity SHH-related disorder, Solitary median maxillary central incisor syndrome
RS2535897568 IMPG1 Health Risk Pathogenic —
RS2535897640 IMPG1 Health Risk Pathogenic —
RS2535897761 IMPG1 Health Risk Pathogenic —
RS2535897794 IMPG1 Health Risk Likely pathogenic Vitelliform macular dystrophy 4, Vitelliform macular dystrophy 4
RS2535900806 SHH Health Risk Pathogenic Septo-optic dysplasia sequence, Septo-optic dysplasia sequence
RS2535901206 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS2535901228 SHH Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 3, Holoprosencephaly 3
RS2535901752 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535901953 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535902088 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535902178 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535904850 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS2535905306 CD36 Health Risk Likely pathogenic CD36-related disorder, CD36-related disorder
RS2535909385 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535909471 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535909627 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535909752 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535910324 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535910363 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535910513 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS2535910794 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535911020 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535911081 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535911171 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535911235 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS2535911241 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535911452 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535911476 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535915961 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2535916908 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535916919 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535919253 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535919361 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535919474 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535923881 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535924122 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535924290 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535924522 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535924832 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535926151 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535926992 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535927086 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535927168 WRN Health Risk Likely pathogenic —
RS2535927271 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS2535928309 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535930261 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535930302 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535930349 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535930387 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2535930484 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535931386 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535931724 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2535931905 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2535932377 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2535933115 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS2535933581 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535934098 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
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