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: rs11750568
rs11750568 		3 1.000 0.080 5 179108712 downstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2621215
rs2621215
COL1A2
2 0.925 0.080 7 94426732 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs42524
rs42524
COL1A2
6 0.827 0.160 7 94413927 missense variant C/A;G;T snv 8.0E-06; 0.77; 8.0E-06 0.010 1.000 1 2009 2009