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: rs4143245
rs4143245
COL27A1
1 1.000 9 114270742 synonymous variant T/C snv 0.42 0.42 0.010 1.000 1 2013 2013