Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200476039
rs200476039
3 2 54760823 intron variant TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT delins 5.5E-02 0.700 1.000 1 2016 2016