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: rs117957029
rs117957029
LOC105370064
1 1.000 0.040 12 127200688 intron variant T/C snv 1.4E-02 0.700 1.000 1 2017 2017