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
RS2471917613 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS2471929571 THRB Health Risk Likely pathogenic THRB-related disorder, THRB-related disorder
RS2471955328 ARL13B Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2471967457 FOXF1 Health Risk Pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS2471975615 TRIP12 Health Risk Likely pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2471982038 TRIP12 Health Risk Likely pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2472052956 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2472056818 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2472099074 TRIP12 Health Risk Likely pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2472099492 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2472099808 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2472099899 PROS1 Health Risk Likely pathogenic —
RS2472101425 ROBO1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined or isolated
RS2472105562 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2472107191 PROS1 Health Risk Likely pathogenic —
RS2472107297 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2472111058 CPOX Health Risk Likely pathogenic Hereditary coproporphyria, Hereditary coproporphyria
RS2472111423 CPOX Health Risk Pathogenic —
RS2472115014 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS2472116620 CPOX Health Risk Pathogenic —
RS2472117699 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2472117875 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2472117896 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2472120866 CPOX Health Risk Likely pathogenic CPOX-related hereditary coproporphyria, CPOX-related hereditary coproporphyria
RS2472122003 ARL13B Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2472132174 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2472132177 PROS1 Health Risk Likely pathogenic —
RS2472132377 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2472135703 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2472142700 PROS1 Health Risk Likely pathogenic —
RS2472142938 PROS1 Health Risk Likely pathogenic —
RS2472142959 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS2472148797 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS2472148801 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS2472148844 PROS1 Health Risk Likely pathogenic —
RS2472148966 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS2472165392 DAG1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Autosomal recessive limb-girdle muscular dystrophy type 2P
RS2472180029 IFT57 Health Risk Conflicting classifications of pathogenicity —
RS2472188 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Acrodermatitis continua suppurativa of Hallopeau
RS2472195074 TBC1D23 Health Risk Pathogenic Pontocerebellar hypoplasia, type 11
RS2472198025 ROBO1 Health Risk Likely pathogenic ROBO1-related disorder, ROBO1-related disorder
RS2472288529 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2472299130 C3orf52 Health Risk Pathogenic Hypotrichosis 15, Hypotrichosis 15
RS2472352059 ROBO1 Health Risk Pathogenic —
RS2472357438 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2472395615 NEK10 Health Risk Pathogenic Ciliary dyskinesia, primary
RS2472398055 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2472403686 IQCB1 Health Risk Pathogenic —
RS2472408270 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472408689 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472408735 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472408864 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472422216 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472427053 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2472427221 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472427229 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472430261 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2472432421 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2472432983 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472450213 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472452131 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472452798 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472458663 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472460455 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS2472460697 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS2472460701 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS2472464628 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS2472492064 SETD5 Health Risk Pathogenic See cases, See cases
RS2472494193 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472497493 LAMB2 Health Risk Pathogenic —
RS2472498909 SLCO2A1 Health Risk Pathogenic Pachydermoperiostosis syndrome, Pachydermoperiostosis syndrome
RS2472510703 LAMB2 Health Risk Likely pathogenic LAMB2-related disorder, LAMB2-related disorder
RS2472527664 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2472529375 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Squamous cell lung carcinoma
RS2472529640 PLXNA1 Health Risk Likely pathogenic Neurodevelopmental disorder with variable cerebral and eye anomalies, Neurodevelopmental disorder with variable cerebral and eye anomalies
RS2472529689 PLXNA1 Health Risk Likely pathogenic Dworschak-Punetha neurodevelopmental syndrome, Dworschak-Punetha neurodevelopmental syndrome
RS2472534505 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS2472536768 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS2472537403 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS2472538323 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS2472539033 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS2472540557 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS2472541995 LAMB2 Health Risk Likely pathogenic —
RS2472542236 LAMB2 Health Risk Pathogenic Pierson syndrome, Pierson syndrome
RS2472543506 LAMB2 Health Risk Pathogenic/Likely pathogenic Kidney disorder, Pierson syndrome
RS2472544213 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2472548507 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS2472550610 LAMB2 Health Risk Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2472551994 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2472555978 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS2472565080 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS2472574504 COL4A4 Health Risk Pathogenic —
RS2472576453 COL4A4 Health Risk Pathogenic —
RS2472583392 COL4A4 Health Risk Pathogenic —
RS2472602654 COL4A4 Health Risk Pathogenic —
RS2472603434 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS2472603497 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hematuria
RS2472605075 COL4A4 Health Risk Pathogenic —
RS2472606199 DAG1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P, Autosomal recessive limb-girdle muscular dystrophy type 2P
RS2472609270 COL4A4 Health Risk Pathogenic —
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