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
RS2101947647 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2101948096 CTSK Health Risk Pathogenic —
RS2101951417 CTSK Health Risk Pathogenic —
RS2101951483 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2101951545 CTSK Health Risk Conflicting classifications of pathogenicity Pyknodysostosis, Pyknodysostosis
RS2101951549 SPTA1 Health Risk Likely pathogenic —
RS2101951608 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS2101951629 CTSK Health Risk Likely pathogenic —
RS2101951641 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS2101951646 CTSK Health Risk Pathogenic —
RS2101951671 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2101951682 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS2101953129 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS2101953162 CTSK Health Risk Pathogenic —
RS2101953352 CTSK Health Risk Pathogenic —
RS2101953359 CTSK Health Risk Likely pathogenic —
RS2101953595 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS2101954034 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS2101957676 SPTA1 Health Risk Likely pathogenic —
RS2101958311 SPTA1 Health Risk Likely pathogenic —
RS2101962817 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Stickler syndrome type 2
RS2101965598 PMVK Health Risk Likely pathogenic Linear porokeratosis, Linear porokeratosis
RS2101975422 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2101982402 HJV Health Risk Pathogenic —
RS2101982519 HJV Health Risk Pathogenic —
RS2101984042 HJV Health Risk Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS2101984222 HJV Health Risk Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS2101984266 HJV Health Risk Pathogenic —
RS2101984343 HJV Health Risk Pathogenic —
RS2101984593 HJV Health Risk Pathogenic —
RS2101984604 HJV Health Risk Pathogenic —
RS2101984855 HJV Health Risk Pathogenic —
RS2101984887 HJV Health Risk Pathogenic —
RS2101985522 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS2101985658 HJV Health Risk Likely pathogenic —
RS2101986321 HJV Health Risk Likely pathogenic —
RS2101986549 HJV Health Risk Pathogenic —
RS2101986552 HJV Health Risk Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS2101986777 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS2101988410 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS2101988461 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, See cases
RS2101989829 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Inborn genetic diseases
RS2101995228 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2101995423 ATP1A2 Health Risk Pathogenic Spastic ataxia, Spastic ataxia
RS2101995474 ATP1A2 Health Risk Likely pathogenic —
RS2101995480 ATP1A2 Health Risk Likely pathogenic Alternating hemiplegia of childhood 1, Alternating hemiplegia of childhood 1
RS2101995530 KCND3 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2101995572 KCND3 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2101995847 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS2101995864 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Migraine
RS2101996488 ATP1A2 Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS2101997230 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS2102000044 ATP1A2 Health Risk Likely pathogenic —
RS2102003035 NPHP4 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2102011470 TNR Health Risk Pathogenic Neurodevelopmental disorder, nonprogressive
RS2102020754 PRG4 Health Risk Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS2102025845 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS2102028973 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS2102030658 NDUFS2 Health Risk Pathogenic —
RS2102031816 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS2102034857 TNR Health Risk Pathogenic Neurodevelopmental disorder, nonprogressive
RS2102038469 CDC73 Health Risk Likely pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2102038475 CDC73 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2102038969 PRG4 Health Risk Pathogenic —
RS2102057068 NDUFS2 Health Risk Likely pathogenic —
RS2102058252 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2102058495 CDC73 Health Risk Likely pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2102061867 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2102061886 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2102061912 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2102063243 CACNA1E Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 69
RS2102065180 RFX5 Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2102068023 RFX5 Health Risk Pathogenic MHC class II deficiency 3, MHC class II deficiency
RS2102068802 EDEM3 Health Risk Pathogenic Congenital disorder of glycosylation, type 2v
RS2102081225 EDEM3 Health Risk Pathogenic Congenital disorder of glycosylation, type 2v
RS2102081233 EDEM3 Health Risk Pathogenic Congenital disorder of glycosylation, type 2v
RS2102089507 EDEM3 Health Risk Pathogenic Congenital disorder of glycosylation, type 2v
RS2102093642 EDEM3 Health Risk Pathogenic Congenital disorder of glycosylation, type 2v
RS2102095661 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS2102105455 TAF13 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 60
RS2102125471 CADM3 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS2102127825 DDR2 Health Risk Pathogenic —
RS2102132473 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2102135193 DDR2 Health Risk Likely pathogenic —
RS2102135828 CACNA1S Health Risk Pathogenic Congenital myopathy 18, Centronuclear myopathy
RS2102135936 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS2102140073 NPHP4 Health Risk Pathogenic —
RS2102142398 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS2102144416 CACNA1S Health Risk Pathogenic/Likely pathogenic Malignant hyperthermia, susceptibility to
RS2102145038 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102145228 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102145521 POGZ Health Risk Pathogenic —
RS2102146729 POGZ Health Risk Pathogenic/Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102146999 NEXN Health Risk Pathogenic Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS2102147153 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Inborn genetic diseases
RS2102147202 NEXN Health Risk Likely pathogenic Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS2102149671 POGZ Health Risk Pathogenic —
RS2102150015 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2102150755 POGZ Health Risk Pathogenic —
RS2102151799 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
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