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
RS1578085426 PROM1 Health Risk Pathogenic —
RS1578089802 PARK7 Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
RS1578097528 PROM1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1578111345 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578111378 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1578111620 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1578111741 PKD2 Health Risk Pathogenic —
RS1578111778 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1578118330 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1578118371 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578125066 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS1578125670 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1578126090 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1578126437 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1578129049 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS1578130536 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578130597 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578130676 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS1578133684 PKD2 Health Risk Likely pathogenic —
RS1578135823 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578135829 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578135842 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578135870 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS1578135940 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS1578139269 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578141765 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578142941 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578142944 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578144873 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578144898 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1578147448 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS1578148821 PKD2 Health Risk Pathogenic —
RS1578152074 DMP1 Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS1578153553 PKD2 Health Risk Likely pathogenic —
RS1578153598 PKD2 Health Risk Conflicting classifications of pathogenicity PKD2-related disorder, Polycystic kidney disease 2
RS1578168407 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS1578172709 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS1578175759 TTN Health Risk Likely pathogenic —
RS1578183451 WDFY3 Health Risk Likely pathogenic Prostate cancer, Prostate cancer
RS1578188501 SEC31A Health Risk Pathogenic Neurodevelopmental disorder with spastic quadriplegia, optic atrophy
RS1578202642 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1578209906 SRD5A3 Health Risk Pathogenic/Likely pathogenic Kahrizi syndrome, SRD5A3-congenital disorder of glycosylation
RS1578218644 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578218746 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1578218761 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1578219024 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578219056 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578219900 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578220161 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578220313 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578220332 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1578220452 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1578220482 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1578220681 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1578220985 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578221396 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578222261 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1578223103 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1578223257 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578223418 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1578223503 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1578223547 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1578224271 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1578224341 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1578224345 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1578225176 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1578225739 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1578225793 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578225825 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1578225864 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1578225974 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578226444 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1578226535 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578227520 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1578227605 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1578230320 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1578230334 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1578231322 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1578264146 TET2 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1578264574 UGDH Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1578265048 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1578265068 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1578269200 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1578269761 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1578270476 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1578272223 TACR3 Health Risk Likely pathogenic —
RS1578274054 UGDH Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1578278088 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS1578278300 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1578278354 RHO Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1578278417 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS1578278438 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS1578279277 FRAS1 Health Risk Pathogenic —
RS1578279746 RHO Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1578280574 RHO Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1578280588 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 4
RS1578280614 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS1578281136 RHO Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 4
RS1578281565 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS1578281625 RHO Health Risk Likely pathogenic —
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