Gene: COL1A1 ×
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: rs1057518930
rs1057518930
COL1A1
3 1.000 0.080 17 50197009 splice donor variant C/G snv 0.700 0
dbSNP: rs1555572315
rs1555572315
COL1A1
1 17 50188740 splice donor variant A/T snv 0.700 0
dbSNP: rs1567757138
rs1567757138
COL1A1
2 1.000 0.120 17 50191446 frameshift variant A/- del 0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0