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
RS2106206598 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS2106208285 CHRND Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 3B, Lethal multiple pterygium syndrome
RS2106209945 FARSB Health Risk Pathogenic Rajab interstitial lung disease with brain calcifications 1, Rajab interstitial lung disease with brain calcifications 1
RS2106211133 COL4A3 Health Risk Pathogenic —
RS2106217873 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2106220457 CUL3 Health Risk Pathogenic Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
RS2106220741 CUL3 Health Risk Pathogenic —
RS2106220804 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, Perlman syndrome
RS2106220962 CUL3 Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS2106221030 CUL3 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2106221493 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2106221588 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106221597 CHRNG Health Risk Likely pathogenic Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS2106221927 CHRNG Health Risk Pathogenic Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS2106221995 CHRNG Health Risk Likely pathogenic Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS2106223392 CUL3 Health Risk Pathogenic —
RS2106223532 CUL3 Health Risk Likely pathogenic —
RS2106223664 CUL3 Health Risk Pathogenic Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
RS2106223668 CUL3 Health Risk Pathogenic CUL3-related disorder, Inborn genetic diseases
RS2106223773 CUL3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
RS2106223782 CUL3 Health Risk Likely pathogenic Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
RS2106226183 COL4A3 Health Risk Pathogenic —
RS2106226493 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2106230623 FARSB Health Risk Pathogenic Rajab interstitial lung disease with brain calcifications 1, Rajab interstitial lung disease with brain calcifications 1
RS2106232915 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106235905 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Benign familial hematuria
RS2106236091 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2106236126 COL4A3 Health Risk Pathogenic —
RS2106236191 COL4A3 Health Risk Pathogenic —
RS2106237105 COL4A3 Health Risk Likely pathogenic —
RS2106239691 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106239900 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106246658 COL4A3 Health Risk Pathogenic —
RS2106246712 COL4A3 Health Risk Pathogenic —
RS2106247498 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS2106247510 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS2106247623 COL4A3 Health Risk Pathogenic —
RS2106250143 ZNF142 Health Risk Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS2106250495 FN1 Health Risk Likely pathogenic See cases, See cases
RS2106250696 COL4A3 Health Risk Pathogenic —
RS2106250767 COL4A3 Health Risk Pathogenic —
RS2106250807 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2106261987 PDE6D Health Risk Pathogenic Joubert syndrome 22, Joubert syndrome 22
RS2106264503 CUL3 Health Risk Likely pathogenic Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
RS2106264622 CUL3 Health Risk Pathogenic —
RS2106264887 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106264934 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2106267339 COL4A3 Health Risk Likely pathogenic —
RS2106267620 COL4A3 Health Risk Pathogenic —
RS2106271012 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2106271092 COL4A3 Health Risk Pathogenic —
RS2106274329 COL4A3 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS2106274574 COL4A3 Health Risk Pathogenic —
RS2106281153 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106283830 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Alport syndrome 3b
RS2106284079 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2106284607 COL4A3 Health Risk Pathogenic —
RS2106288671 COL4A3 Health Risk Likely pathogenic —
RS2106289464 COL4A3 Health Risk Pathogenic —
RS2106291953 MLPH Health Risk Likely pathogenic Griscelli syndrome type 3, Griscelli syndrome type 3
RS2106294164 PDE6D Health Risk Pathogenic Joubert syndrome 22, Joubert syndrome 22
RS2106295155 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
RS2106297951 COL4A3 Health Risk Likely pathogenic —
RS2106298115 COL4A3 Health Risk Likely pathogenic —
RS2106303300 MAP3K20 Health Risk Likely pathogenic MAP3K20-related disorder, MAP3K20-related disorder
RS2106304000 CUL3 Health Risk Pathogenic Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
RS2106304006 CUL3 Health Risk Likely pathogenic —
RS2106304068 CUL3 Health Risk Pathogenic —
RS2106304517 CUL3 Health Risk Likely pathogenic —
RS2106308424 IHH Health Risk Pathogenic —
RS2106308536 IHH Health Risk Likely pathogenic —
RS2106308616 IHH Health Risk Likely pathogenic —
RS2106309194 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106309216 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2106310580 IHH Health Risk Pathogenic Brachydactyly type A1, Brachydactyly type A1
RS2106310688 IHH Health Risk Pathogenic —
RS2106312317 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106314700 COL6A3 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2106317762 COL6A3 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS2106318158 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2106319784 COL6A3 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS2106320090 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS2106320484 BCS1L Health Risk Pathogenic/Likely pathogenic GRACILE syndrome, GRACILE syndrome
RS2106322191 BCS1L Health Risk Likely pathogenic —
RS2106324466 BCS1L Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
RS2106324666 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106324972 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106325341 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2106325851 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2106325859 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2106328711 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2106328737 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2106329063 BCS1L Health Risk Likely pathogenic —
RS2106329218 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2106329494 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2106329702 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2106332781 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS2106337664 MAP3K20 Health Risk Pathogenic —
RS2106338008 SCN1A-AS1;SCN9A Health Risk Likely pathogenic —
RS2106341060 COL6A3 Health Risk Likely pathogenic —
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