Source: BEFREE ×
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: rs104894377
rs104894377
TBX5
1 1.000 0.120 12 114401863 stop gained C/A snv 0.710 1.000 1 2004 2004
dbSNP: rs1057519975
rs1057519975
TP53
21 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1057519987
rs1057519987
TP53
1 0.776 0.280 17 7673810 missense variant A/C snv 0.010 1.000 1 2006 2006
dbSNP: rs1402467081
rs1402467081
GLB1 ; LOC107986073
1 1.000 0.120 3 33021598 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs761887139
rs761887139
GLB1
2 0.925 0.160 3 33051997 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006