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
RS2530896937 FAT4 Health Risk Pathogenic —
RS2530897266 FAT4 Health Risk Pathogenic —
RS2530899339 MSH6 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2530899972 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2530901028 FAT4 Health Risk Pathogenic —
RS2530903802 ADGRV1 Health Risk Likely pathogenic —
RS2530905739 WDFY3 Health Risk Likely pathogenic Microcephaly 18, primary
RS2530906062 ADGRV1 Health Risk Pathogenic —
RS2530906188 ADGRV1 Health Risk Pathogenic —
RS2530906897 ADGRV1 Health Risk Pathogenic —
RS2530907604 FAT4 Health Risk Pathogenic —
RS2530908124 ADGRV1 Health Risk Pathogenic —
RS2530908758 COL7A1 Health Risk Pathogenic —
RS2530908786 COL7A1 Health Risk Pathogenic —
RS2530911498 WDFY3 Health Risk Likely pathogenic Microcephaly 18, primary
RS2530912560 COL7A1 Health Risk Likely pathogenic —
RS2530913503 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2530914946 COL7A1 Health Risk Likely pathogenic —
RS2530915229 COL7A1 Health Risk Pathogenic —
RS2530915318 COL7A1 Health Risk Pathogenic —
RS2530915443 COL7A1 Health Risk Pathogenic —
RS2530915554 COL7A1 Health Risk Pathogenic —
RS2530925226 PROM1 Health Risk Pathogenic —
RS2530925634 COL7A1 Health Risk Pathogenic —
RS2530926325 MAP3K1 Health Risk Pathogenic 46, XY sex reversal 6
RS2530929818 ADGRV1 Health Risk Pathogenic —
RS2530932127 COL7A1 Health Risk Likely pathogenic —
RS2530933851 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530936224 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2530936412 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2530936478 FBXO11 Health Risk Pathogenic —
RS2530936585 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2530936889 FBXO11;MSH6 Health Risk Likely pathogenic Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2530937941 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2530945305 ADGRV1 Health Risk Pathogenic —
RS2530947103 ADGRV1 Health Risk Pathogenic —
RS2530947238 COL7A1 Health Risk Likely pathogenic —
RS2530947513 COL7A1 Health Risk Pathogenic —
RS2530948932 LIFR Health Risk Likely pathogenic —
RS2530953333 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530953573 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530954124 PIK3R1 Health Risk Likely pathogenic Immunodeficiency 36 with lymphoproliferation, Agammaglobulinemia 7
RS2530954242 LIFR Health Risk Pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2530954352 LIFR Health Risk Pathogenic —
RS2530954644 COL7A1 Health Risk Pathogenic —
RS2530954961 COL7A1 Health Risk Pathogenic —
RS2530955325 COL7A1 Health Risk Pathogenic —
RS2530957121 ADGRV1 Health Risk Pathogenic —
RS2530957601 ADGRV1 Health Risk Pathogenic —
RS2530958634 ADGRV1 Health Risk Pathogenic —
RS2530961037 COL7A1 Health Risk Pathogenic —
RS2530961555 COL7A1 Health Risk Pathogenic —
RS2530962740 PDE4D Health Risk Pathogenic Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS2530962892 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS2530963146 FBXO11 Health Risk Pathogenic —
RS2530964031 MAP3K1 Health Risk Likely pathogenic 46, XY sex reversal 6
RS2530965573 COL7A1 Health Risk Pathogenic —
RS2530965674 COL7A1 Health Risk Pathogenic —
RS2530965720 SLCO2A1 Health Risk Pathogenic —
RS2530966244 COL7A1 Health Risk Pathogenic —
RS2530966816 COL7A1 Health Risk Likely pathogenic —
RS2530967533 ANKRD17 Health Risk Conflicting classifications of pathogenicity ANKRD17-related disorder, Chopra-Amiel-Gordon syndrome
RS2530967790 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530967894 LIFR Health Risk Pathogenic —
RS2530968026 LIFR Health Risk Pathogenic —
RS2530968047 LIFR Health Risk Pathogenic —
RS2530970163 COL7A1 Health Risk Likely pathogenic —
RS2530970295 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS2530971773 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2530972775 COL7A1 Health Risk Pathogenic —
RS2530973212 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS2530973442 FBXO11 Health Risk Pathogenic —
RS2530975216 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS2530977738 COL7A1 Health Risk Likely pathogenic —
RS2530977941 COL7A1 Health Risk Pathogenic COL7A1-related disorder, COL7A1-related disorder
RS2530978135 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2530978371 COL7A1 Health Risk Pathogenic —
RS2530982887 ADGRV1 Health Risk Pathogenic —
RS2530983801 ADGRV1 Health Risk Pathogenic —
RS2530983823 ADGRV1 Health Risk Pathogenic —
RS2530987988 LIFR Health Risk Pathogenic Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS2530988286 LIFR Health Risk Pathogenic —
RS2530989090 LIFR Health Risk Pathogenic —
RS2530989113 LIFR Health Risk Pathogenic —
RS2530991909 COL7A1 Health Risk Pathogenic —
RS2530992842 COL7A1 Health Risk Pathogenic —
RS2530998107 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2530998325 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531000229 LIFR Health Risk Pathogenic —
RS2531000611 AP3B1 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 2
RS2531000854 FAT4 Health Risk Pathogenic —
RS2531000911 LIFR Health Risk Pathogenic —
RS2531000994 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS2531000996 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2531001005 PIK3R1 Health Risk Pathogenic SHORT syndrome, Agammaglobulinemia 7
RS2531001159 PIK3R1 Health Risk Pathogenic Agammaglobulinemia 7, autosomal recessive
RS2531001532 LIFR Health Risk Pathogenic —
RS2531001766 PIK3R1 Health Risk Pathogenic Agammaglobulinemia 7, autosomal recessive
RS2531001936 PIK3R1 Health Risk Likely pathogenic Vascular malformation, Vascular malformation
RS2531002141 LIFR Health Risk Likely pathogenic —
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