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: rs201397168
rs201397168
TNXB
1 1.000 0.160 6 32068536 missense variant T/A snv 9.2E-04 5.4E-04 0.700 0
dbSNP: rs863224860
rs863224860
COL3A1
2 0.925 0.160 2 189010732 stop gained C/T snv 0.700 0
dbSNP: rs56345590
rs56345590
TNXB
2 0.925 0.200 6 32042485 missense variant G/A;C snv 4.0E-06; 2.0E-05 0.010 1.000 1 2015 2015