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
RS2498757244 KRT3 Health Risk Likely pathogenic Corneal dystrophy, Meesmann
RS2498822931 DRC2 Health Risk Pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS2498826813 LRP6 Health Risk Pathogenic —
RS2498836177 DRC2 Health Risk Pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS2498844405 DRC2 Health Risk Pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS2498847212 AMHR2 Health Risk Pathogenic —
RS2498858790 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2498859541 TUBA1A Health Risk Likely pathogenic —
RS2498859689 TUBA1A Health Risk Likely pathogenic TUBA1A-related disorder, TUBA1A-related disorder
RS2498860043 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2498860114 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2498860279 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2498860323 TUBA1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2498860607 TUBA1A Health Risk Pathogenic —
RS2498860632 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2498860713 TUBA1A Health Risk Pathogenic Lissencephaly type 3, Lissencephaly type 3
RS2498860754 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS2498860775 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS2498860919 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2498860952 TUBA1A Health Risk Conflicting classifications of pathogenicity —
RS2498861047 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2498861285 TUBA1A Health Risk Likely pathogenic —
RS2498862449 TUBA1A Health Risk Pathogenic Congenital bilateral perisylvian syndrome, Congenital bilateral perisylvian syndrome
RS2498862501 TUBA1A Health Risk Likely pathogenic —
RS2498863253 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2498863339 TUBA1A Health Risk Likely pathogenic TUBA1A-related disorder, TUBA1A-related disorder
RS2498863473 TUBA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2498863514 TUBA1A Health Risk Likely pathogenic —
RS2498863626 TUBA1A Health Risk Likely pathogenic Lissencephaly due to TUBA1A mutation, Lissencephaly due to TUBA1A mutation
RS2498871403 LRP6 Health Risk Likely pathogenic —
RS2498872352 LRP6 Health Risk Pathogenic Oligodontia, Oligodontia
RS2498879920 LRP6 Health Risk Pathogenic Oligodontia, Tooth agenesis
RS2498892982 ARF3 Health Risk Pathogenic 7 conditions, 7 conditions
RS2498893389 ARF3 Health Risk Pathogenic/Likely pathogenic Hypotonia, Microcephaly
RS2498894678 ARF3 Health Risk Pathogenic Intellectual disability, Atrophy/Degeneration affecting the central nervous system
RS2498895308 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Pheochromocytoma
RS2498895509 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Pheochromocytoma
RS2498895877 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS2498897350 ARF3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Atrophy/Degeneration affecting the central nervous system
RS2498897479 ARF3 Health Risk Pathogenic Intellectual disability, Kyphosis
RS2498899507 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2498899719 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2498900005 SDHD Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1
RS2498900089 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome
RS2498900134 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Cowden syndrome 3
RS2498900155 SDHD Health Risk Pathogenic Pheochromocytoma, Cowden syndrome 3
RS2498904353 SDHD Health Risk Pathogenic/Likely pathogenic Carney-Stratakis syndrome, Pheochromocytoma
RS2498904485 SDHD Health Risk Likely pathogenic —
RS2498904623 SDHD Health Risk Pathogenic Pheochromocytoma, Cowden syndrome 3
RS2498904629 SDHD Health Risk Likely pathogenic Pheochromocytoma, Pheochromocytoma
RS2498904892 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Cowden syndrome 3
RS2498905122 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2498905197 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Pheochromocytoma
RS2498905386 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2498905415 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2498905492 SDHD Health Risk Pathogenic —
RS2498907861 LEMD3 Health Risk Pathogenic —
RS2498908670 LEMD3 Health Risk Likely pathogenic —
RS2498908689 LEMD3 Health Risk Pathogenic —
RS2498913917 LEMD3 Health Risk Pathogenic —
RS2498917264 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS2498917388 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2498917467 SDHD Health Risk Conflicting classifications of pathogenicity Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome
RS2498917523 SDHD Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1
RS2498917639 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS2498922382 AMHR2 Health Risk Pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS2498929809 HMGA2 Health Risk Likely pathogenic Silver-Russell syndrome 5, Silver-Russell syndrome 5
RS2498933809 HMGA2 Health Risk Pathogenic Silver-Russell syndrome 5, Silver-Russell syndrome 5
RS2498935928 WNT10B Health Risk Likely pathogenic —
RS2498938198 LEMD3 Health Risk Pathogenic —
RS2498938244 LEMD3 Health Risk Pathogenic —
RS2498938371 LEMD3 Health Risk Likely pathogenic LEMD3-related disorder, LEMD3-related disorder
RS2498940721 LEMD3 Health Risk Pathogenic —
RS2498940737 LEMD3 Health Risk Pathogenic —
RS2498942293 TCF12 Health Risk Pathogenic —
RS2498945193 WNT1 Health Risk Pathogenic —
RS2498945327 WNT1 Health Risk Pathogenic —
RS2498946534 WNT1 Health Risk Likely pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS2498947344 WNT1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS2498947383 WNT1 Health Risk Pathogenic See cases, See cases
RS2498947644 WNT1 Health Risk Likely pathogenic —
RS2498947744 WNT1 Health Risk Pathogenic —
RS2498947823 WNT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2498948534 WNT1 Health Risk Pathogenic —
RS2498956114 LRP6 Health Risk Pathogenic —
RS2498957462 LRP6 Health Risk Pathogenic —
RS2498970944 NUP107 Health Risk Likely pathogenic NUP107-related disorder, NUP107-related disorder
RS2498979360 LRP6 Health Risk Pathogenic —
RS2498984328 PRPH Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS2499022427 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2499023157 KMT2D Health Risk Likely pathogenic —
RS2499024405 KMT2D Health Risk Pathogenic —
RS2499024542 KMT2D Health Risk Likely pathogenic —
RS2499024618 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2499025686 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2499025974 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2499026487 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS2499026932 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS2499030412 KMT2D Health Risk Likely pathogenic Kabuki syndrome, Kabuki syndrome
RS2499030677 KMT2D Health Risk Likely pathogenic KMT2D-related disorder, KMT2D-related disorder
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