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: rs863225192
rs863225192
CSPP1
1 1.000 8 67093588 frameshift variant A/- del 0.700 1.000 1 2015 2015