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: rs1114167414
rs1114167414
COL1A2
2 0.925 0.120 7 94426433 missense variant G/A snv 0.700 0
dbSNP: rs66501246
rs66501246
COL1A1
2 0.925 0.120 17 50195441 missense variant C/G;T 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: rs66548636
rs66548636
COL1A1
2 0.925 0.120 17 50195469 missense variant C/A;G;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: rs67682641
rs67682641
COL1A1
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 0
dbSNP: rs72654802
rs72654802
COL1A1
3 0.882 0.120 17 50188122 missense variant C/T snv 0.700 0
dbSNP: rs72656305
rs72656305
COL1A1
1 1.000 0.120 17 50187982 missense variant C/G snv 0.700 0
dbSNP: rs72656308
rs72656308
COL1A1
1 1.000 0.120 17 50187946 missense variant C/T snv 0.700 0
dbSNP: rs72656311
rs72656311
COL1A1
1 1.000 0.120 17 50187928 missense variant C/G snv 0.700 0
dbSNP: rs72656312
rs72656312
COL1A1
1 1.000 0.120 17 50187537 missense variant C/A snv 0.700 0
dbSNP: rs72656317
rs72656317
COL1A1
1 1.000 0.120 17 50187122 missense variant C/T snv 0.700 0
dbSNP: rs72656342
rs72656342
COL1A1
1 1.000 0.120 17 50186493 missense variant C/G snv 0.700 0
dbSNP: rs72656343
rs72656343
COL1A1
3 0.882 0.120 17 50186386 stop gained C/A;T snv 0.700 0
dbSNP: rs72656348
rs72656348
COL1A1
1 1.000 0.120 17 50185863 missense variant A/C snv 0.700 0
dbSNP: rs72656349
rs72656349
COL1A1
1 1.000 0.120 17 50185789 missense variant C/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