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: rs80338915
rs80338915
TFAP2B
1 1.000 0.080 6 50838007 missense variant G/A snv 0.800 1.000 4 2000 2018
dbSNP: rs80338910
rs80338910
TFAP2B
1 1.000 0.080 6 50823543 missense variant C/G snv 0.800 1.000 3 2000 2005
dbSNP: rs80338912
rs80338912
TFAP2B
1 1.000 0.080 6 50836165 missense variant C/A;T snv 0.800 1.000 3 2000 2005
dbSNP: rs80338914
rs80338914
TFAP2B
1 1.000 0.080 6 50837977 missense variant C/A snv 0.800 1.000 3 2000 2005
dbSNP: rs80338917
rs80338917
TFAP2B
1 1.000 0.080 6 50838051 missense variant C/T snv 0.800 1.000 3 2000 2005
dbSNP: rs1232197674
rs1232197674
TFAP2B
5 0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1561964103
rs1561964103
TFAP2B
7 0.882 0.080 6 50836108 frameshift variant G/- delins 0.700 0
dbSNP: rs80338911
rs80338911
TFAP2B
2 0.925 0.080 6 50828684 splice region variant G/A snv 0.700 0
dbSNP: rs80338916
rs80338916
TFAP2B
1 1.000 0.080 6 50837974 splice acceptor variant G/C snv 0.700 0