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: rs1555811929
rs1555811929
ARFGEF2
1 1.000 0.080 20 48989389 frameshift variant CC/T delins 0.700 0
dbSNP: rs28937880
rs28937880
ARFGEF2
1 1.000 0.080 20 48953577 missense variant G/A snv 1.8E-03 7.8E-04 0.700 0
dbSNP: rs398122523
rs398122523
ARFGEF2
1 1.000 0.080 20 48976200 splice donor variant G/A snv 0.700 0