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: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 0
dbSNP: rs66820119
rs66820119
COL1A2
1 1.000 0.160 7 94401566 splice acceptor variant G/A;C;T snv 0.700 0
dbSNP: rs67543427
rs67543427
COL1A2
8 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0
dbSNP: rs72656355
rs72656355
COL1A2
3 0.882 0.200 7 94401565 splice acceptor variant A/G snv 0.700 0
dbSNP: rs72656357
rs72656357
COL1A2
3 0.882 0.200 7 94401622 splice donor variant T/C snv 0.700 0
dbSNP: rs72659319
rs72659319
COL1A2
9 0.763 0.240 7 94426459 missense variant G/A;C snv 0.700 0
dbSNP: rs72667036
rs72667036
COL1A1
2 0.925 0.200 17 50197770 stop gained G/A snv 0.700 0