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: rs11402145
rs11402145
1 14 58261180 intron variant TTT/-;TT;TTTT;TTTTT;TTTTTTTTTTTTT delins 0.700 1.000 1 2016 2016