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: rs121908842
rs121908842
TP63
1 1.000 0.200 3 189890795 missense variant A/T snv 0.800 1.000 1 2001 2001
dbSNP: rs121908843
rs121908843
TP63
1 1.000 0.200 3 189890817 missense variant T/G snv 0.800 1.000 1 2001 2001
dbSNP: rs121908845
rs121908845
TP63
2 0.925 0.200 3 189889478 missense variant T/C snv 0.710 1.000 1 2010 2010
dbSNP: rs113993963
rs113993963
TP63
2 0.925 0.240 3 189789816 missense variant A/C snv 0.700 0
dbSNP: rs113993964
rs113993964
TP63
1 1.000 0.200 3 189894305 frameshift variant C/- del 0.700 0
dbSNP: rs113993966
rs113993966
TP63
2 0.925 0.240 3 189868596 missense variant C/G snv 0.700 0
dbSNP: rs113993967
rs113993967
TP63
5 0.851 0.240 3 189868597 missense variant G/A snv 0.700 0
dbSNP: rs1213960426
rs1213960426
UVRAG
1 1.000 0.200 11 76140853 missense variant C/T snv 0.020 1.000 2 2005 2012
dbSNP: rs1249463028
rs1249463028
CKAP4
1 1.000 0.200 12 106239293 missense variant G/A snv 0.020 1.000 2 2005 2012
dbSNP: rs751077552
rs751077552
FGFR2
1 1.000 0.200 10 121496717 missense variant G/A snv 8.0E-06 0.020 1.000 2 2005 2012
dbSNP: rs760026775
rs760026775
TP63
1 1.000 0.200 3 189894389 missense variant T/C snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2012