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
RS192461213 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1924613524 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 10, Noonan syndrome 2
RS1924613952 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924617179 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924619294 PCDH19 Health Risk Pathogenic Seizure, Seizure
RS1924619856 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924631837 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS1924632209 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924636315 LZTR1 Health Risk Pathogenic —
RS1924648986 SMS Health Risk Likely pathogenic Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
RS1924650670 SMS Health Risk Pathogenic Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
RS1924657058 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924657431 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924658167 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS192467838 COL9A1 Health Risk Conflicting classifications of pathogenicity Optic atrophy, Retinal dystrophy
RS192468365 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS1924687245 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924689522 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS192469262 PARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PARS2-related disorder
RS1924703709 LZTR1 Health Risk Pathogenic LZTR1-related schwannomatosis, Noonan syndrome 10
RS1924706492 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924708834 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924717650 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924717764 LZTR1 Health Risk Pathogenic Schwannomatosis, Schwannomatosis
RS1924718115 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924721014 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS192472249 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial hypertrophic 27
RS192473445 SPINK5 Health Risk Pathogenic/Likely pathogenic Ichthyosis linearis circumflexa, Netherton syndrome
RS1924756229 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS1924761308 LZTR1 Health Risk Pathogenic —
RS1924761523 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS192476178 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1924769528 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS192477196 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1924773761 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924774579 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924776523 LZTR1 Health Risk Pathogenic —
RS1924776706 LZTR1 Health Risk Pathogenic/Likely pathogenic —
RS1924778981 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924812950 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924832357 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS192483691 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Hearing impairment
RS1924842665 CLCN4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 49
RS1924863354 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924863769 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924866379 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1924868328 LZTR1 Health Risk Pathogenic Noonan syndrome 2, Schwannomatosis
RS1924869044 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1924894762 RP2 Health Risk Pathogenic —
RS1924895234 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924895839 LZTR1 Health Risk Pathogenic/Likely pathogenic —
RS1924896735 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924897230 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS192489748 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS1924897691 RP2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1924897764 RP2 Health Risk Pathogenic —
RS1924898105 RP2 Health Risk Likely pathogenic —
RS1924898110 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS1924899673 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1924900389 RP2 Health Risk Pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS1924900972 RP2 Health Risk Pathogenic —
RS1924901288 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1924904407 RP2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1924904597 RP2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 2
RS1924904684 RP2 Health Risk Pathogenic —
RS1924906177 RP2 Health Risk Pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS1924906653 RP2 Health Risk Pathogenic —
RS1924907644 RP2 Health Risk Pathogenic —
RS1924907742 RP2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1924908706 RP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS192491153 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1924911894 RP2 Health Risk Pathogenic —
RS1924915809 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 2
RS192491895 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS192492405 CLCN4 Health Risk Conflicting classifications of pathogenicity —
RS192495718 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS192496253 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS192497923 TG Health Risk Conflicting classifications of pathogenicity —
RS192498365 SLFN14 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 20, SLFN14-related disorder
RS192499281 SCFD2 Health Risk Likely pathogenic Autism, susceptiblity to
RS192499639 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS192502283 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS192502889 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1925035156 RP2 Health Risk Likely pathogenic —
RS1925035229 RP2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1925037391 RP2 Health Risk Pathogenic —
RS192509310 PDE2A Health Risk Conflicting classifications of pathogenicity —
RS192514171 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS192515277 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome 1, MED12-related intellectual disability syndrome
RS192519670 PLG Health Risk Conflicting classifications of pathogenicity Deep venous thrombosis, PLG-related disorder
RS192522753 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS192524061 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS1925241775 SMS Health Risk Pathogenic Intellectual disability, Intellectual disability
RS192525493 ABCD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adrenoleukodystrophy
RS1925261282 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS192528655 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1925389524 RP2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1925390218 RP2 Health Risk Pathogenic —
RS1925391988 RP2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1925392056 RP2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
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