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
RS2531144916 LIFR Health Risk Likely pathogenic —
RS2531144958 LIFR Health Risk Pathogenic —
RS2531147281 COL7A1 Health Risk Likely pathogenic —
RS2531148134 ADGRV1 Health Risk Pathogenic —
RS2531148361 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2531148387 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531150861 COL7A1 Health Risk Pathogenic —
RS2531154707 COL7A1 Health Risk Likely pathogenic —
RS2531155501 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531170545 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS2531170933 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS2531171895 COL7A1 Health Risk Likely pathogenic —
RS2531180833 OBSCN Health Risk Pathogenic —
RS2531182038 COL7A1 Health Risk Pathogenic —
RS2531182274 COL7A1 Health Risk Pathogenic —
RS2531183347 COL7A1 Health Risk Likely pathogenic —
RS2531187229 RASA1 Health Risk Pathogenic RASA1-related disorder, RASA1-related disorder
RS2531187256 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531187455 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS2531190870 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531191006 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531192062 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2531192349 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531193329 ADAM17 Health Risk Likely pathogenic Inflammatory skin and bowel disease, neonatal
RS2531194790 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531194903 CCNH;RASA1 Health Risk Likely pathogenic —
RS2531194989 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531197015 COL7A1 Health Risk Likely pathogenic —
RS2531199866 COL7A1 Health Risk Pathogenic —
RS2531202927 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531204647 COL7A1 Health Risk Pathogenic —
RS2531205224 COL7A1 Health Risk Pathogenic —
RS2531209106 ADGRV1 Health Risk Pathogenic —
RS2531211348 ADGRV1 Health Risk Pathogenic —
RS2531212164 RASA1 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531212404 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531215713 COL7A1 Health Risk Pathogenic —
RS2531217950 OCLN Health Risk Likely pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS2531219086 ADAM17 Health Risk Likely pathogenic Inflammatory skin and bowel disease, neonatal
RS2531219268 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS2531223524 COL7A1 Health Risk Pathogenic —
RS2531223667 FBXO11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2531224207 COL7A1 Health Risk Likely pathogenic —
RS2531225738 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531227718 COL7A1 Health Risk Pathogenic —
RS2531231205 OCLN Health Risk Likely pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS2531234929 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531235100 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS2531240476 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS2531241120 COL7A1 Health Risk Pathogenic —
RS2531241138 PDE8B Health Risk Pathogenic —
RS2531241997 COL7A1 Health Risk Pathogenic —
RS2531242512 COL7A1 Health Risk Pathogenic —
RS2531243592 CWC27 Health Risk Pathogenic —
RS2531255948 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531256358 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531256481 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531257577 COL7A1 Health Risk Likely pathogenic —
RS2531257617 COL7A1 Health Risk Likely pathogenic —
RS2531258078 ADGRV1 Health Risk Pathogenic —
RS2531258355 ADGRV1 Health Risk Pathogenic —
RS2531258831 COL7A1 Health Risk Pathogenic —
RS2531259501 FBXO11 Health Risk Pathogenic —
RS2531260480 COL7A1 Health Risk Pathogenic —
RS2531262327 ANKRD17 Health Risk Pathogenic —
RS2531263293 COL7A1 Health Risk Pathogenic —
RS2531267500 COL7A1 Health Risk Likely pathogenic —
RS2531270458 ADGRV1 Health Risk Pathogenic —
RS2531272296 CWC27 Health Risk Likely pathogenic —
RS2531275882 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2531278356 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2531279048 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2531279207 MEF2C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2531280321 COL7A1 Health Risk Pathogenic —
RS2531283403 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2531288112 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2531288616 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2531289348 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2531289507 MEF2C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2531292522 COL7A1 Health Risk Likely pathogenic —
RS2531297194 CWC27 Health Risk Pathogenic —
RS2531299088 COL7A1 Health Risk Pathogenic —
RS2531299956 COL7A1 Health Risk Pathogenic —
RS2531300001 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531304601 RASA1 Health Risk Likely pathogenic RASA1-related disorder, RASA1-related disorder
RS2531304808 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531304828 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531304891 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531309664 COL7A1 Health Risk Pathogenic —
RS2531312088 COL7A1 Health Risk Pathogenic —
RS2531313503 COL7A1 Health Risk Pathogenic —
RS2531315765 COL7A1 Health Risk Pathogenic —
RS2531319633 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS2531322648 ADGRV1 Health Risk Pathogenic —
RS2531322688 COL7A1 Health Risk Pathogenic —
RS2531324128 RASA1 Health Risk Likely pathogenic RASA1-related disorder, RASA1-related disorder
RS2531330328 COL7A1 Health Risk Pathogenic —
RS2531333188 COL7A1 Health Risk Likely pathogenic COL7A1-related disorder, COL7A1-related disorder
RS2531335042 ATP2C1 Health Risk Pathogenic —
RS2531335688 COL7A1 Health Risk Pathogenic —
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