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
RS2546165318 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS2546166179 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546166888 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546167400 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546167853 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2546169588 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8
RS2546170566 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS2546170602 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS2546171803 LPIN1 Health Risk Pathogenic —
RS2546175066 TTC8 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 51, Bardet-Biedl syndrome
RS2546180341 OBSL1 Health Risk Likely pathogenic 3M syndrome 2, 3M syndrome 2
RS2546193322 TPO Health Risk Pathogenic —
RS2546193716 TPO Health Risk Pathogenic —
RS2546193734 TPO Health Risk Pathogenic —
RS2546193773 TPO Health Risk Pathogenic —
RS2546194616 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2546203255 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS2546211394 LPIN1 Health Risk Pathogenic —
RS2546211584 LPIN1 Health Risk Pathogenic —
RS2546212098 LPIN1 Health Risk Pathogenic —
RS2546212330 TTC8 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2546212520 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS2546212753 TTC8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
RS2546217470 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2546230995 TTC8 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Retinitis pigmentosa 51
RS2546231494 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2546233249 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS2546234808 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS2546234815 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS2546236188 PTPN23 Health Risk Pathogenic —
RS2546237065 TTC8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2546237444 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS2546240502 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546240643 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546241222 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546246459 PTPN23 Health Risk Pathogenic —
RS2546247192 PTPN23 Health Risk Likely pathogenic Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS2546247239 OBSL1 Health Risk Likely pathogenic OBSL1-related disorder, OBSL1-related disorder
RS2546247318 PTPN23 Health Risk Likely pathogenic Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, PTPN23-related disorder
RS2546247822 PTPN23 Health Risk Pathogenic —
RS2546248424 PTPN23 Health Risk Pathogenic —
RS2546249090 TPO Health Risk Likely pathogenic —
RS2546249724 PTPN23 Health Risk Pathogenic —
RS2546251685 PTPN23 Health Risk Pathogenic —
RS2546251911 PTPN23 Health Risk Pathogenic —
RS2546252750 PTPN23 Health Risk Pathogenic —
RS2546254135 SLC2A9 Health Risk Pathogenic —
RS2546256203 PTPN23 Health Risk Pathogenic —
RS2546256341 PTPN23 Health Risk Likely pathogenic —
RS2546258996 PTPN23 Health Risk Likely pathogenic —
RS2546268710 TRIM37 Health Risk Likely pathogenic —
RS2546271493 TPO Health Risk Pathogenic —
RS2546280571 TPO Health Risk Likely pathogenic —
RS2546295090 OBSL1 Health Risk Likely pathogenic 3M syndrome 2, 3M syndrome 2
RS2546334707 TPO Health Risk Pathogenic —
RS2546335307 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546335395 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546335527 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546335552 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546335558 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546335679 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546335696 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546335698 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546335765 TPO Health Risk Pathogenic —
RS2546335768 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546335813 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546335891 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546335895 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546335940 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546335980 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546337476 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546337480 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546337484 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546337523 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546337573 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546339446 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546339447 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546339507 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546339598 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546339600 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546340450 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2546340528 SIL1 Health Risk Pathogenic —
RS2546342886 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546342956 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546342963 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546344787 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546344807 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546344826 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546344966 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546344970 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546344998 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS2546345169 SIL1 Health Risk Likely pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2546345800 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546345815 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546345912 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS2546345935 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546345956 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS2546345991 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS2546354841 ROBO1 Health Risk Likely pathogenic ROBO1-related disorder, ROBO1-related disorder
RS2546366412 SIL1 Health Risk Likely pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
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