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: rs67641695
rs67641695
COL1A1
1 1.000 0.120 17 50188592 missense variant C/T snv 0.700 1.000 15 1989 2008
dbSNP: rs72645363
rs72645363
COL1A1
1 1.000 0.120 17 50195931 missense variant C/G snv 0.700 1.000 15 1989 2008
dbSNP: rs72656320
rs72656320
COL1A1
1 1.000 0.120 17 50187095 missense variant C/T snv 0.700 1.000 15 1989 2008
dbSNP: rs72658186
rs72658186
COL1A2
1 1.000 0.120 7 94421045 missense variant G/A snv 0.700 1.000 15 1991 2006
dbSNP: rs72658191
rs72658191
COL1A2
1 1.000 0.120 7 94423011 missense variant G/A snv 0.700 1.000 15 1991 2006
dbSNP: rs1114167388
rs1114167388
COL1A1
1 1.000 0.120 17 50191840 missense variant C/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167390
rs1114167390
COL1A1
1 1.000 0.120 17 50191382 splice donor variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167409
rs1114167409
COL1A1
1 1.000 0.120 17 50201444 inframe deletion TTGGCC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1114167412
rs1114167412
COL1A2
1 1.000 0.120 7 94410492 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs67609234
rs67609234
COL1A2
1 1.000 0.120 7 94425832 missense variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67729041
rs67729041
COL1A2
1 1.000 0.120 7 94409778 missense variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs72658125
rs72658125
COL1A2
1 1.000 0.120 7 94413110 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs72658150
rs72658150
COL1A2
1 1.000 0.120 7 94417797 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1131692320
rs1131692320
COL1A1
1 1.000 0.120 17 50187103 missense variant C/T snv 0.700 0
dbSNP: rs1554396283
rs1554396283
COL1A2
1 1.000 0.120 7 94410926 missense variant G/T snv 0.700 0
dbSNP: rs1800250
rs1800250
COL1A2
1 1.000 0.120 7 94427801 missense variant A/C snv 0.700 0
dbSNP: rs267606742
rs267606742
COL1A2
1 1.000 0.120 7 94427628 missense variant G/A snv 0.700 0
dbSNP: rs72645320
rs72645320
COL1A1
1 1.000 0.120 17 50197053 missense variant C/T snv 0.700 0
dbSNP: rs72656353
rs72656353
COL1A1
1 1.000 0.120 17 50185506 missense variant A/G snv 0.700 0
dbSNP: rs72656402
rs72656402
COL1A2
1 1.000 0.120 7 94410429 missense variant G/T snv 0.700 0
dbSNP: rs72658126
rs72658126
COL1A2
1 1.000 0.120 7 94413128 missense variant G/C snv 0.700 0
dbSNP: rs72658200
rs72658200
COL1A2
1 1.000 0.120 7 94424345 missense variant G/A snv 0.700 0
dbSNP: rs72659312
rs72659312
COL1A2
1 1.000 0.120 7 94425759 missense variant G/A snv 0.700 0
dbSNP: rs72659316
rs72659316
COL1A2
1 1.000 0.120 7 94426026 missense variant G/T snv 0.700 0
dbSNP: rs72659337
rs72659337
COL1A2
1 1.000 0.120 7 94427646 missense variant G/C snv 0.700 0