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
RS1967822544 COX6B1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1967849812 KPTN Health Risk Pathogenic Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS1967855547 SLC7A9 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS1967928524 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1967935603 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1967935882 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1967936031 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1967945316 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1967947276 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1967952850 KPTN Health Risk Pathogenic Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS1967980468 C3 Health Risk Likely pathogenic —
RS1967997615 RYR1 Health Risk Pathogenic/Likely pathogenic Malignant hyperthermia of anesthesia, RYR1-related disorder
RS1968005848 RGS9BP Health Risk Pathogenic Bradyopsia, Bradyopsia
RS1968006085 RGS9BP Health Risk Pathogenic Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2
RS1968050698 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1968060326 CIT Health Risk Pathogenic Microcephaly 17, primary
RS1968071233 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1968087179 RTN2 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1968093571 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1968112121 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1968115710 CRX Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968116898 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968117526 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1968160841 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968162133 CRX Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1968162287 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968163226 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968164438 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968164899 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968165008 CRX Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 7
RS1968165080 CRX Health Risk Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 7
RS1968165217 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968165374 CRX Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1968165665 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1968165787 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1968166379 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1968166700 CRX Health Risk Pathogenic —
RS1968166909 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968167093 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968167254 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968167603 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968168564 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968169004 CRX Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 7
RS1968169100 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968169272 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968169319 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968170098 CRX Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1968172289 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968173024 CRX Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968173864 CRX Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1968178599 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1968240092 ACTN4 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS1968241252 RTN2 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 12
RS1968243327 RTN2 Health Risk Pathogenic Hereditary spastic paraplegia 12, Hereditary spastic paraplegia 12
RS1968291835 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1968358471 SPINT2 Health Risk Pathogenic —
RS1968362507 MESP2 Health Risk Pathogenic —
RS1968363285 MESP2 Health Risk Pathogenic —
RS1968366995 MESP2 Health Risk Pathogenic —
RS1968523602 MKS1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1968540857 RYR1 Health Risk Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS1968559161 SMG9 Health Risk Pathogenic Neurodevelopmental abnormality, Heart and brain malformation syndrome
RS1968566020 COL4A4 Health Risk Likely pathogenic COL4A4-related disorder, Autosomal recessive Alport syndrome
RS1968570122 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1968570536 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS1968585119 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1968590611 COL4A4 Health Risk Likely pathogenic Hematuria, Autosomal recessive Alport syndrome
RS1968606914 SPINT2 Health Risk Pathogenic Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
RS1968640181 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1968675432 MKS1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1968693380 SLC7A9 Health Risk Pathogenic —
RS1968731636 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1968784029 DNAH9 Health Risk Pathogenic DNAH9-related disorder, DNAH9-related disorder
RS1968790427 DNAH9 Health Risk Likely pathogenic DNAH9-related disorder, DNAH9-related disorder
RS1968802190 SMG9 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1968813234 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1968819398 SLC7A9 Health Risk Pathogenic —
RS1968829014 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS1968845280 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS1968848668 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1968850188 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1968852685 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1968931002 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1968952487 SMG9 Health Risk Likely pathogenic —
RS1968963177 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1968969593 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1968973786 MKS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 13, Meckel syndrome
RS1969024891 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS1969025340 KMT2B Health Risk Likely pathogenic Autism, Autism
RS1969053208 RNASEH2A Health Risk Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS1969063562 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1969067636 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1969104362 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS1969106432 YIF1B Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
RS1969141028 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1969146161 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS1969157452 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1969172237 ODAD3 Health Risk Pathogenic Kartagener syndrome, Kartagener syndrome
RS1969196534 CHD3 Health Risk Pathogenic —
RS1969205627 YIF1B Health Risk Pathogenic Kaya-Barakat-Masson syndrome, Kaya-Barakat-Masson syndrome
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