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: rs147948835
rs147948835
ERCC6L2
1 1.000 9 95955996 stop gained C/T snv 1.6E-04 2.2E-04 0.700 0
dbSNP: rs886037662
rs886037662
ERCC6L2
1 1.000 9 95921217 frameshift variant AACA/- delins 7.0E-06 0.700 0