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
RS2536509915 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2536510463 KMT2E Health Risk Pathogenic —
RS2536510853 KMT2E Health Risk Pathogenic —
RS2536511201 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536512347 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536512447 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2536513831 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536513946 KMT2E Health Risk Pathogenic —
RS2536513950 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2536515054 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536517418 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2536517599 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536518341 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536520170 KMT2E Health Risk Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536523348 KMT2E Health Risk Likely pathogenic KMT2E-related disorder, KMT2E-related disorder
RS2536525260 PKHD1 Health Risk Likely pathogenic PKHD1-related disorder, PKHD1-related disorder
RS2536525400 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536525829 KMT2E Health Risk Pathogenic/Likely pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS2536526427 KMT2E Health Risk Pathogenic —
RS2536527391 KMT2E Health Risk Likely pathogenic —
RS2536527907 KMT2E Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS2536536790 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536537920 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536552892 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2536554746 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2536555093 RP1 Health Risk Pathogenic —
RS2536555559 RP1 Health Risk Pathogenic —
RS2536555955 RP1 Health Risk Pathogenic —
RS2536556666 RP1 Health Risk Pathogenic —
RS2536560109 RP1 Health Risk Pathogenic —
RS2536560378 RP1 Health Risk Pathogenic —
RS2536567810 CNTNAP2 Health Risk Pathogenic Pitt-Hopkins-like syndrome, Pitt-Hopkins-like syndrome
RS2536568594 RP1 Health Risk Pathogenic —
RS2536569041 RP1 Health Risk Pathogenic —
RS2536569044 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536570679 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536571427 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536571512 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2536571707 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2536571771 RP1 Health Risk Pathogenic —
RS2536572369 RP1 Health Risk Pathogenic RP1-related disorder, RP1-related disorder
RS2536572966 RP1 Health Risk Pathogenic —
RS2536573032 RP1 Health Risk Pathogenic —
RS2536573093 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536573250 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2536573409 RP1 Health Risk Pathogenic —
RS2536573440 RP1 Health Risk Pathogenic —
RS2536573637 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS2536573639 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536574349 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536574739 RP1 Health Risk Pathogenic —
RS2536575024 RP1 Health Risk Pathogenic —
RS2536575137 RP1 Health Risk Pathogenic —
RS2536575444 RP1 Health Risk Pathogenic —
RS2536575500 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536575548 RP1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 1
RS2536575656 RP1 Health Risk Pathogenic —
RS2536575668 RP1 Health Risk Pathogenic —
RS2536575680 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536575730 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536575855 RP1 Health Risk Pathogenic —
RS2536577406 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536577860 RP1 Health Risk Pathogenic —
RS2536578178 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536579110 RP1 Health Risk Pathogenic —
RS2536579397 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2536580654 PMS2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS2536580771 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536580992 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS2536581139 RP1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2536581337 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2536581344 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536581397 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536582212 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2536582397 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536582702 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536582708 RP1 Health Risk Pathogenic —
RS2536582790 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2536583013 TRPS1 Health Risk Likely pathogenic TRPS1-related disorder, TRPS1-related disorder
RS2536583024 TRPS1 Health Risk Pathogenic/Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2536583263 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536584230 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2536585086 RP1 Health Risk Pathogenic —
RS2536585374 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536585398 RP1 Health Risk Pathogenic —
RS2536585664 RP1 Health Risk Pathogenic —
RS2536586783 RP1 Health Risk Pathogenic —
RS2536587419 RP1 Health Risk Pathogenic —
RS2536588340 TRPS1 Health Risk Likely pathogenic —
RS2536588347 RP1 Health Risk Pathogenic —
RS2536588559 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2536588626 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal syndrome, Trichorhinophalangeal syndrome
RS2536588687 TRPS1 Health Risk Pathogenic Sarcoma, Sarcoma
RS2536588880 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2536589369 PMS2 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2536589593 RP1 Health Risk Pathogenic —
RS2536589816 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2536590213 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2536590297 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2536591325 JPH1 Health Risk Likely pathogenic Congenital myopathy 25, Congenital myopathy
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