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: rs117038461
rs117038461
1 1.000 0.040 7 100243731 intron variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015