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: rs1206388800
rs1206388800
COL1A2
1 1.000 0.120 7 94408342 missense variant C/T snv 4.0E-06 2.8E-05 0.700 1.000 15 1989 2009
dbSNP: rs66716547
rs66716547
COL1A2
1 1.000 0.120 7 94421935 missense variant G/A;T snv 0.700 1.000 15 1989 2009
dbSNP: rs66999265
rs66999265
COL1A2
1 1.000 0.120 7 94413111 missense variant G/A;T snv 0.700 1.000 15 1989 2009
dbSNP: rs72658187
rs72658187
COL1A2
1 1.000 0.120 7 94421908 missense variant G/T snv 0.700 1.000 15 1989 2009
dbSNP: rs72658188
rs72658188
COL1A2
1 1.000 0.120 7 94421918 missense variant G/A snv 0.700 1.000 15 1989 2009
dbSNP: rs121912902
rs121912902
COL1A2
2 0.925 0.120 7 94424363 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs72658161
rs72658161
COL1A2
1 1.000 0.120 7 94420252 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs1114167414
rs1114167414
COL1A2
2 0.925 0.120 7 94426433 missense variant G/A snv 0.700 0
dbSNP: rs66507857
rs66507857
COL1A2
1 1.000 0.120 7 94425777 missense variant G/A;T snv 0.700 0
dbSNP: rs66592844
rs66592844
COL1A2
1 1.000 0.120 7 94421899 missense variant G/A;C snv 0.700 0
dbSNP: rs67422093
rs67422093
COL1A2
1 1.000 0.120 7 94425999 missense variant G/A;T snv 0.700 0
dbSNP: rs72656385
rs72656385
COL1A2
1 1.000 0.120 7 94408789 missense variant G/A snv 0.700 0
dbSNP: rs72658109
rs72658109
COL1A2
1 1.000 0.120 7 94410917 missense variant G/T snv 0.700 0
dbSNP: rs72658114
rs72658114
COL1A2
1 1.000 0.120 7 94411102 missense variant G/A snv 0.700 0
dbSNP: rs72658117
rs72658117
COL1A2
1 1.000 0.120 7 94412077 missense variant G/T snv 0.700 0
dbSNP: rs72658130
rs72658130
COL1A2
1 1.000 0.120 7 94413709 missense variant G/A snv 0.700 0
dbSNP: rs72658136
rs72658136
COL1A2
1 1.000 0.120 7 94413921 missense variant G/C snv 0.700 0
dbSNP: rs72658138
rs72658138
COL1A2
1 1.000 0.120 7 94414240 missense variant G/T snv 0.700 0
dbSNP: rs72658139
rs72658139
COL1A2
1 1.000 0.120 7 94415262 missense variant G/C snv 0.700 0
dbSNP: rs72658141
rs72658141
COL1A2
1 1.000 0.120 7 94416414 missense variant G/A;T snv 0.700 0
dbSNP: rs72658145
rs72658145
COL1A2
1 1.000 0.120 7 94417734 missense variant G/A;C snv 4.6E-06 0.700 0
dbSNP: rs72658148
rs72658148
COL1A2
1 1.000 0.120 7 94417770 missense variant G/A snv 0.700 0
dbSNP: rs72658155
rs72658155
COL1A2
1 1.000 0.120 7 94418536 missense variant G/A snv 0.700 0
dbSNP: rs72658167
rs72658167
COL1A2
1 1.000 0.120 7 94420401 missense variant G/A snv 0.700 0
dbSNP: rs72658171
rs72658171
COL1A2
1 1.000 0.120 7 94420541 missense variant G/T snv 0.700 0