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: rs66883877
rs66883877
COL1A2
3 0.882 0.160 7 94419499 missense variant G/A;C;T snv 4.0E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs72651645
rs72651645
COL1A1
2 0.925 0.160 17 50191463 missense variant C/T snv 0.700 0
dbSNP: rs121912986
rs121912986
DSPP
3 0.882 0.200 4 87610957 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs201185673
rs201185673
PDLIM3
1 1.000 0.080 4 185506632 missense variant G/A snv 3.0E-04 1.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs67507747
rs67507747
COL1A1
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs72651638
rs72651638
COL1A1
1 1.000 0.080 17 50191850 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs749422119
rs749422119
DSP
1 1.000 0.080 6 7568548 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007