Source: ALL
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: rs11085226
rs11085226
PTBP1
1 1.000 0.080 19 799770 intron variant A/G snv 8.7E-02 0.010 < 0.001 1 2015 2015