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
RS1553282545 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS1553282635 HNRNPU Health Risk Pathogenic —
RS1553282698 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553282707 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553282723 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1553282754 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1553282768 TNNT2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS1553283037 HNRNPU Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553283111 LYST Health Risk Likely pathogenic —
RS1553283444 HNRNPU Health Risk Pathogenic —
RS1553283831 HNRNPU Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1553283895 HNRNPU Health Risk Pathogenic heterogeneous nuclear ribonucleoprotein G, human
RS1553283899 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1553283916 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS1553283946 HNRNPU Health Risk Pathogenic —
RS1553283951 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1553283982 HNRNPU Health Risk Pathogenic —
RS1553284007 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS1553284965 RPL5 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553284997 RPL5 Health Risk Pathogenic/Likely pathogenic 17 conditions, Diamond-Blackfan anemia
RS1553285919 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553285944 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553285970 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553286278 CACNA1E Health Risk Likely pathogenic —
RS1553286282 CACNA1E Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 69
RS1553286808 NLRP3 Health Risk Pathogenic Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS1553287070 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553287116 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553287118 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553287287 NLRP3 Health Risk Likely pathogenic —
RS1553288180 CAMTA1 Health Risk Likely pathogenic —
RS1553288266 CAMTA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553288362 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS1553288555 CENPF Health Risk Likely pathogenic —
RS1553289042 TBX19 Health Risk Pathogenic Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS1553289863 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, Kostmann syndrome
RS1553290222 CENPF Health Risk Likely pathogenic —
RS1553292099 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1553292105 TGFB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553292112 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1553292123 TGFB2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553292145 TGFB2 Health Risk Likely pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1553292987 FBXO28 Health Risk Likely pathogenic Inborn genetic diseases, See cases
RS1553293095 NLRP3 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 34
RS1553294134 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553294144 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553295440 MYT1L Health Risk Pathogenic —
RS1553295536 MSTO1 Health Risk Pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS1553297209 MYT1L Health Risk Pathogenic —
RS1553297684 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553298240 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 2A
RS1553299022 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1553299046 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553299079 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553300016 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553300340 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553300558 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553300632 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS1553303161 TGFB2 Health Risk Likely pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1553303203 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1553303213 TGFB2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS1553303221 TGFB2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1553303352 TGFB2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 4, TGFB2-related disorder
RS1553303357 TGFB2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4
RS1553303745 TGFB2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1553303871 ACTN2 Health Risk Likely pathogenic —
RS1553305080 KIDINS220 Health Risk Likely pathogenic Spastic paraplegia, intellectual disability
RS1553308328 MYT1L Health Risk Likely pathogenic —
RS1553308501 NBAS Health Risk Pathogenic —
RS1553309983 TRAPPC12 Health Risk Likely pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS1553310744 PPP1CB Health Risk Likely pathogenic —
RS1553311527 PPP1CB Health Risk Pathogenic/Likely pathogenic Noonan syndrome-like disorder with loose anagen hair 2, Noonan syndrome-like disorder with loose anagen hair 2
RS1553311645 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1553311647 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1553311706 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1553311716 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1553311804 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1553312033 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1553312058 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1553312368 NPHS2 Health Risk Likely pathogenic —
RS1553312493 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS1553312586 HADHA Health Risk Pathogenic —
RS1553312833 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS1553313308 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553313340 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553313505 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553313551 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553313793 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1553313810 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553313844 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553313859 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Cranioectodermal dysplasia 2
RS1553313909 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1553314023 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1553314024 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1553314070 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Squamous cell carcinoma of the head and neck
RS1553314868 SPAST Health Risk Pathogenic —
RS1553314880 SPAST Health Risk Pathogenic —
RS1553314896 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1553314902 SPAST Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 4
RS1553314948 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
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