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: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 < 0.001 1 2018 2018
dbSNP: rs3134646
rs3134646 		2 0.925 0.080 2 189015117 downstream gene variant G/A snv 0.41 0.010 < 0.001 1 2018 2018