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: rs2120243
rs2120243
VEPH1
3 0.925 0.200 3 157429779 intron variant A/C snv 0.59 0.010 1.000 1 2017 2017