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
RS2527433777 USH2A Health Risk Pathogenic —
RS2527434001 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527434028 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527434040 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527434089 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527434136 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527434580 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527435277 ACTA1 Health Risk Likely pathogenic —
RS2527435672 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527435971 USH2A Health Risk Pathogenic —
RS2527436130 ACTA1 Health Risk Likely pathogenic Alpha-actinopathy, Alpha-actinopathy
RS2527436136 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527436164 ACTA1 Health Risk Likely pathogenic Congenital myopathy, Congenital myopathy
RS2527436174 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527436245 ACTA1 Health Risk Pathogenic Myopathy, Myopathy
RS2527436292 ACTA1 Health Risk Pathogenic Congenital myopathy 2c, severe infantile
RS2527436311 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Congenital myopathy 2c
RS2527436317 USH2A Health Risk Pathogenic —
RS2527436326 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527436614 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527436730 USH2A Health Risk Pathogenic —
RS2527437067 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527437105 ACTA1 Health Risk Likely pathogenic Nemaline myopathy, Congenital myopathy
RS2527437109 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527437138 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527437313 ACTA1 Health Risk Pathogenic ACTA1-related disorder, Nemaline myopathy
RS2527437375 ACTA1 Health Risk Likely pathogenic —
RS2527437435 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527437709 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527437739 ACTA1 Health Risk Pathogenic/Likely pathogenic Congenital myopathy 2c, severe infantile
RS2527437761 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527437872 ACTA1 Health Risk Pathogenic —
RS2527437890 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS2527437986 ACTA1 Health Risk Likely pathogenic —
RS2527438087 ACTA1 Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2527438829 ACTA1 Health Risk Likely pathogenic Progressive scapulohumeroperoneal distal myopathy, Progressive scapulohumeroperoneal distal myopathy
RS2527438840 ACTA1 Health Risk Likely pathogenic Nemaline myopathy, Centronuclear myopathy
RS2527438844 ACTA1 Health Risk Pathogenic/Likely pathogenic Neuromuscular disease, Actin accumulation myopathy
RS2527438980 ACTA1 Health Risk Likely pathogenic Myopathy, Myopathy
RS2527439036 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527439085 ACTA1 Health Risk Likely pathogenic Neuromuscular disease, Neuromuscular disease
RS2527439145 ACTA1 Health Risk Likely pathogenic Congenital myopathy 2c, severe infantile
RS2527439193 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527439205 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527439238 ACTA1 Health Risk Likely pathogenic —
RS2527439283 ACTA1 Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS2527439307 ACTA1 Health Risk Likely pathogenic Nemaline myopathy, Alpha-actinopathy
RS2527439378 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527439613 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527439653 USH2A Health Risk Pathogenic —
RS2527439671 USH2A Health Risk Pathogenic —
RS2527439716 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527439727 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527439836 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527439887 ACTA1 Health Risk Likely pathogenic —
RS2527440009 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527440026 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527440067 CDC73 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Parathyroid carcinoma
RS2527440074 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS2527440081 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527440117 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS2527440139 USH2A Health Risk Pathogenic —
RS2527440176 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527440253 CDC73 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527440254 CDC73 Health Risk Likely pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS2527440288 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527440357 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2527442444 KIDINS220 Health Risk Likely pathogenic —
RS2527445542 USH2A Health Risk Pathogenic —
RS2527445568 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527445574 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2527445617 USH2A Health Risk Likely pathogenic —
RS2527448865 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527449218 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527449293 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527455766 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527455776 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527456144 KDM5B Health Risk Pathogenic Intellectual disability, autosomal recessive 65
RS2527474663 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527475132 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527486492 KDM5B Health Risk Pathogenic Intellectual disability, autosomal recessive 65
RS2527493724 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527493922 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527493958 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2527499676 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527500635 CDC73 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Parathyroid carcinoma
RS2527500780 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527500853 CDC73 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2527501083 REN Health Risk Likely pathogenic —
RS2527502540 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527502777 HNRNPU Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527502885 HNRNPU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS2527504115 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527504511 HNRNPU Health Risk Likely pathogenic See cases, See cases
RS2527505668 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527505699 HNRNPU Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2527505715 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527505764 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527505914 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527506153 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
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