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: rs2249492
rs2249492
COL1A1
2 1.000 0.040 17 50185660 intron variant C/G;T snv 0.59 0.010 1.000 1 2018 2018