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
RS1554210415 KCNQ5 Health Risk Likely pathogenic Inborn genetic diseases, Global developmental delay
RS1554210418 KCNQ5 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1554211308 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554212326 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554212403 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554212744 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1554213853 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554214085 MYO6 Health Risk Likely pathogenic —
RS1554214097 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554214237 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1554214453 EYS Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1554215766 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554215804 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554215959 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554215964 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554215979 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554215986 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554215998 FBXL4 Health Risk Likely pathogenic —
RS1554216303 HDAC3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554216308 HDAC3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554216499 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554216538 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554216571 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554216735 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Squamous cell lung carcinoma
RS1554216943 COL11A2 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Rare genetic deafness
RS1554217476 LAMA2 Health Risk Likely pathogenic —
RS1554217494 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554217626 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1554217691 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554217913 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554217929 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554218479 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554218503 COL11A2 Health Risk Likely pathogenic —
RS1554218506 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1554218519 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1554218566 MYO6 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22
RS1554218666 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554218789 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554218821 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554218926 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554219429 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554219449 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554219474 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554220416 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1554220431 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554220805 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554220864 COL11A2 Health Risk Likely pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS1554221171 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554221189 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554221191 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554221258 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554221465 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554221478 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554221935 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1554221961 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1554222122 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554222130 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1554222508 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554222939 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554223332 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554223403 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554223504 COL11A2 Health Risk Likely pathogenic —
RS1554223902 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1554223950 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554224707 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1554225021 LOC126859807;TNFAIP3 Health Risk Pathogenic —
RS1554225999 COL11A2 Health Risk Pathogenic —
RS1554226001 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554226097 ARID1B Health Risk Pathogenic —
RS1554226131 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554226145 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554226186 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1554226188 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554226209 COL11A2 Health Risk Pathogenic —
RS1554226470 SNX14 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS1554226552 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS1554226673 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1554227092 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1554227162 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554227215 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1554227230 IFNGR1 Health Risk Pathogenic Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
RS1554227278 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554227382 DSE Health Risk Pathogenic Ehlers-Danlos syndrome, musculocontractural type 2
RS1554228601 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554228806 ARID1B Health Risk Pathogenic —
RS1554229312 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1554229912 ARID1B Health Risk Pathogenic —
RS1554230429 LAMA2 Health Risk Pathogenic —
RS1554230455 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1554231205 ARID1B Health Risk Pathogenic ARID1B-related BAFopathy, Coffin-Siris syndrome 1
RS1554231259 ARID1B Health Risk Likely pathogenic —
RS1554231260 ARID1B Health Risk Pathogenic —
RS1554231278 ARID1B Health Risk Pathogenic Medulloblastoma, Coffin-Siris syndrome 1
RS1554231792 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554231803 ARID1B Health Risk Pathogenic —
RS1554231814 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554231830 ARID1B Health Risk Pathogenic —
RS1554231836 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Intellectual disability
RS1554231845 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1554231865 ARID1B Health Risk Conflicting classifications of pathogenicity —
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