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 1.000 1 2018 2018
dbSNP: rs1800255
rs1800255
COL3A1
5 0.851 0.160 2 188999354 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2018 2018
dbSNP: rs3134646
rs3134646 		2 0.925 0.080 2 189015117 downstream gene variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs4662344
rs4662344
ARHGAP15
3 0.925 0.080 2 143591289 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs67153654
rs67153654
FAM155A
3 0.925 0.080 13 107572636 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs7609897
rs7609897
COLQ
3 0.925 0.080 3 15461174 intron variant G/T snv 0.22 0.010 1.000 1 2017 2017