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
RS2134129858 EBF3 Health Risk Pathogenic —
RS2134129924 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2134131094 CAPRIN1 Health Risk Pathogenic CAPRIN1-related neurodevelopmental disorders, CAPRIN1-related neurodevelopmental disorders
RS2134149229 CNNM2 Health Risk Likely pathogenic Hypomagnesemia, seizures
RS2134149603 CNNM2 Health Risk Likely pathogenic Hypomagnesemia, seizures
RS2134151980 KMT2A Health Risk Likely pathogenic KMT2A-related disorder, KMT2A-related disorder
RS2134152310 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134152451 KMT2A Health Risk Likely pathogenic —
RS2134152803 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134153013 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, KMT2A-related disorder
RS2134159675 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2134159699 KAT6B Health Risk Pathogenic/Likely pathogenic —
RS2134165271 KAT6B Health Risk Conflicting classifications of pathogenicity Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2134165472 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2134166251 BLNK Health Risk Pathogenic Agammaglobulinemia 4, autosomal recessive
RS2134168183 MYPN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1KK, MYPN-related myopathy
RS2134169278 KAT6B Health Risk Pathogenic —
RS2134169413 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2134170202 HPSE2 Health Risk Likely pathogenic —
RS2134175729 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS2134191508 FAR1 Health Risk Pathogenic —
RS2134192926 MPDZ Health Risk Likely pathogenic —
RS2134193085 FAR1 Health Risk Pathogenic —
RS2134198422 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2134202766 APOA5 Health Risk Likely pathogenic —
RS2134204980 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2134205727 HPS5 Health Risk Pathogenic —
RS2134215546 TECTA Health Risk Conflicting classifications of pathogenicity —
RS2134215591 TECTA Health Risk Pathogenic —
RS2134215671 TECTA Health Risk Pathogenic —
RS2134222531 CHUK Health Risk Pathogenic —
RS2134229666 CHUK Health Risk Pathogenic Bartsocas-Papas syndrome 2, Bartsocas-Papas syndrome 2
RS2134230434 APOA1 Health Risk Pathogenic —
RS2134230655 APOA1 Health Risk Likely pathogenic Hypoalphalipoproteinemia, primary
RS2134231221 APOA1 Health Risk Likely pathogenic Hypoalphalipoproteinemia, primary
RS2134231440 APOA1 Health Risk Pathogenic Familial amyloid polyneuropathy, Iowa type
RS2134232474 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2134233729 APOA1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hypoalphalipoproteinemia
RS2134234642 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2134234910 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2134235615 KAT6B Health Risk Pathogenic —
RS2134235713 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2134235789 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2134236431 KAT6B Health Risk Likely pathogenic See cases, See cases
RS2134237417 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS2134239492 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2134240152 KAT6B Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2134240789 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2134241204 KAT6B Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2134241318 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS2134241950 KAT6B Health Risk Pathogenic —
RS2134245408 KAT6B Health Risk Likely pathogenic —
RS2134249204 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2134249363 HPS5 Health Risk Pathogenic —
RS2134250333 HPSE2 Health Risk Pathogenic Urofacial syndrome type 1, Urofacial syndrome type 1
RS2134251199 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2134251305 AIP Health Risk Pathogenic —
RS2134253269 HPS5 Health Risk Likely pathogenic —
RS2134253352 AIP Health Risk Pathogenic —
RS2134253566 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, Pfeiffer syndrome
RS2134253609 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related disorder
RS2134253669 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS2134254345 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related disorder
RS2134254562 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, Crouzon syndrome
RS2134254613 AIP Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2134254903 AIP Health Risk Pathogenic —
RS2134255291 AIP Health Risk Pathogenic —
RS2134256250 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS2134256765 FGFR2 Health Risk Likely pathogenic —
RS2134257719 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134258206 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134259032 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134260022 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related disorder
RS2134260133 KMT2A Health Risk Pathogenic —
RS2134260983 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134263074 SHANK2 Health Risk Likely pathogenic —
RS2134263239 KMT2A Health Risk Pathogenic See cases, See cases
RS2134263745 KMT2A Health Risk Pathogenic —
RS2134264496 KMT2A Health Risk Likely pathogenic —
RS2134264638 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134265043 KMT2A Health Risk Pathogenic —
RS2134265865 KMT2A Health Risk Pathogenic —
RS2134266780 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Inborn genetic diseases
RS2134268054 KMT2A Health Risk Pathogenic —
RS2134268340 KMT2A Health Risk Pathogenic —
RS2134268457 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2134268866 KMT2A Health Risk Pathogenic See cases, See cases
RS2134268900 KMT2A Health Risk Pathogenic —
RS2134269273 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134270387 KMT2A Health Risk Pathogenic —
RS2134271140 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134271637 KMT2A Health Risk Pathogenic —
RS2134271866 KMT2A Health Risk Pathogenic —
RS2134272176 KMT2A Health Risk Pathogenic —
RS2134272638 CWF19L1 Health Risk Likely pathogenic —
RS2134272841 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2134273279 KMT2A Health Risk Pathogenic —
RS2134275180 SHANK2 Health Risk Likely pathogenic Autism, susceptibility to
RS2134275196 SHANK2 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder, Rare disease with autism
RS2134277047 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
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