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: rs72659310
rs72659310
COL1A2
3 0.882 0.120 7 94425664 splice donor variant G/A snv 0.700 1.000 11 1984 2018