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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4570
    • SNVs : 3402
    • InDels : 1168
    • Last Update : 07/03/2016

    Detailed information for RetinalMD_04437






    Basic information
    locationchr4:122782829-122782829 (hg19)
    gene symbolBBS7 (Reference) 
    band4q27
    referenceC
    observedT
    diseaseBardet Biedl syndrome
    PubMed ID19402160
    ethnicityJamaica/Trinidad
    descriptionBBS7:NM_018190:exon4:c.G171A:p.V57V,BBS7:NM_176824:exon4:c.G171A:p.V57V (Reference) 
    MGI
    MGI ID1918742
    MGI phenotypemortality/aging
    OMIM
    OMIM ID607590
    OMIM phenotypeBardet-Biedl syndrome 7
    Genome feature annotation
    segmental duplicationconserved TFBSEncode TFBSDNase I hypersensitivity sites
    -
    wgEncodeBroadHmm feature annotation
    Gm12878H1hescHepg2HmecHsmmHuvecK562NhekNhlf
    Name=11_Weak_Txn
    ESP and CG annotation
    ESP5400ESP5400_aaESP5400_eaESP6500ESP6500_aaESP6500_eaESP6500siESP6500si_aaESP6500si_eaCG46CG69
    --
    dbSNP annotation
    snp137snp135snp132snp131snp130snp129snp137_NonFlaggedsnp135_NonFlaggedsnp132_NonFlaggedsnp131_NonFlaggedsnp130_NonFlagged
    1000 genomes annotation
    2012apr2012apr_eur2012apr_amr2012apr_asn2012apr_afr2012feb2011may2010nov
    Functional prediction
    SIFTSIFT predictPolyPhen2PolyPhen2 predictphyloPphyloP predictLRTLRT predictMTMT predictGERP++GERP++ predictGERP++elemGERP++gt2
    -----------3.69
    Conserved and constrained region annotation
    multiz46way
    phastcons46wayScore=512;Name=lod=161
    phylop46way
    RNA function annotation
    human_predictions_S_C_aug2010human_predictions_S_0_aug2010human_predictions_0_C_aug2010human_predictions_0_0_aug2010circRNAs sebastian memczakconserved functional RNA