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
RS2531002170 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531002366 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531002584 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1
RS2531003190 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS2531003311 FBXO11 Health Risk Likely pathogenic FBXO11-related disorder, FBXO11-related disorder
RS2531003398 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531003517 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531003554 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531003684 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531003739 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531003767 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2531003780 COL7A1 Health Risk Pathogenic —
RS2531003856 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531003866 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531003868 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2531004004 COL7A1 Health Risk Pathogenic —
RS2531010723 PIK3R1 Health Risk Pathogenic Agammaglobulinemia 7, autosomal recessive
RS2531011660 PIK3R1 Health Risk Likely pathogenic SHORT syndrome, SHORT syndrome
RS2531013627 LIFR Health Risk Pathogenic —
RS2531013834 LIFR Health Risk Pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2531022178 FAT4 Health Risk Pathogenic —
RS2531028269 LIFR Health Risk Pathogenic —
RS2531028773 ATP2C1 Health Risk Likely pathogenic —
RS2531028797 LIFR Health Risk Pathogenic —
RS2531028879 LIFR Health Risk Pathogenic —
RS2531029612 LIFR Health Risk Likely pathogenic —
RS2531030542 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531035426 LIFR Health Risk Pathogenic —
RS2531035684 LIFR Health Risk Pathogenic —
RS2531038212 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS2531043713 LIFR Health Risk Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2531043843 LIFR Health Risk Pathogenic —
RS2531044217 LIFR Health Risk Pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2531044671 LIFR Health Risk Pathogenic —
RS2531047469 COL7A1 Health Risk Likely pathogenic COL7A1-related disorder, COL7A1-related disorder
RS2531047714 LIFR Health Risk Pathogenic —
RS2531047728 LIFR Health Risk Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2531051260 ATP2C1 Health Risk Pathogenic —
RS2531053190 COL7A1 Health Risk Pathogenic —
RS2531054735 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531055112 COL7A1 Health Risk Pathogenic —
RS2531055149 COL7A1 Health Risk Pathogenic —
RS2531057032 FBXO11 Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS2531057878 COL7A1 Health Risk Pathogenic —
RS2531059728 COL7A1 Health Risk Likely pathogenic —
RS2531059791 COL7A1 Health Risk Pathogenic —
RS2531062985 COL7A1 Health Risk Likely pathogenic —
RS2531063518 COL7A1 Health Risk Pathogenic —
RS2531063636 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531066176 LIFR Health Risk Likely pathogenic —
RS2531070418 ANKRD17 Health Risk Pathogenic —
RS2531070828 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2531071168 LIFR Health Risk Pathogenic Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS2531071182 LIFR Health Risk Pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2531071794 LIFR Health Risk Pathogenic —
RS2531076655 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531076892 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531076982 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531080753 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531081710 ADGRV1 Health Risk Pathogenic —
RS2531082087 ADGRV1 Health Risk Pathogenic —
RS2531082528 ADGRV1 Health Risk Pathogenic —
RS2531087867 COL7A1 Health Risk Pathogenic —
RS2531088120 COL7A1 Health Risk Likely pathogenic —
RS2531091833 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2531099938 ADAM17 Health Risk Pathogenic/Likely pathogenic Inflammatory skin and bowel disease, neonatal
RS2531100944 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2531101531 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2531101705 FBXO11 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2531103719 COL7A1 Health Risk Pathogenic —
RS2531105647 COL7A1 Health Risk Likely pathogenic —
RS2531106124 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS2531106977 OCLN Health Risk Pathogenic —
RS2531107840 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531108645 COL7A1 Health Risk Pathogenic —
RS2531110975 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531113923 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS2531113955 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2531114400 COL7A1 Health Risk Likely pathogenic —
RS2531114421 COL7A1 Health Risk Likely pathogenic —
RS2531115922 LIFR Health Risk Likely pathogenic —
RS2531116066 LIFR Health Risk Pathogenic —
RS2531116819 LIFR Health Risk Pathogenic —
RS2531117312 LIFR Health Risk Likely pathogenic —
RS2531119855 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS2531121295 ADGRV1 Health Risk Pathogenic —
RS2531123144 OCLN Health Risk Likely pathogenic Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
RS2531123654 COL7A1 Health Risk Likely pathogenic —
RS2531123732 COL7A1 Health Risk Pathogenic —
RS2531124019 COL7A1 Health Risk Likely pathogenic —
RS2531130676 LIFR Health Risk Pathogenic/Likely pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2531130694 LIFR Health Risk Pathogenic —
RS2531131693 LIFR Health Risk Likely pathogenic —
RS2531132403 ATP2C1 Health Risk Pathogenic —
RS2531133278 ATP2C1 Health Risk Pathogenic —
RS2531133399 ATP2C1 Health Risk Pathogenic/Likely pathogenic Familial benign pemphigus, Familial benign pemphigus
RS2531134507 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS2531143837 ADGRV1 Health Risk Pathogenic —
RS2531143895 COL7A1 Health Risk Pathogenic —
RS2531144033 COL7A1 Health Risk Likely pathogenic —
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