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: rs387906663
rs387906663
WNT5A
1 1.000 0.200 3 55474477 missense variant A/G snv 0.800 1.000 1 2010 2010
dbSNP: rs786200925
rs786200925
WNT5A
2 0.925 0.200 3 55479457 missense variant C/G snv 0.800 1.000 1 2010 2010
dbSNP: rs869025215
rs869025215
DVL3
2 0.925 0.200 3 184170088 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs869025216
rs869025216
DVL3
2 0.925 0.200 3 184170317 splice acceptor variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs869025217
rs869025217
DVL3
2 0.925 0.200 3 184170318 splice acceptor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs869025218
rs869025218
DVL3
2 0.925 0.200 3 184170320 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs869025219
rs869025219
DVL3
2 0.925 0.200 3 184170353 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs1553677967
rs1553677967
WNT5A
1 1.000 0.200 3 55474528 inframe insertion -/CCGCAG delins 0.700 0
dbSNP: rs1553677971
rs1553677971
WNT5A
1 1.000 0.200 3 55474542 missense variant G/C snv 0.700 0
dbSNP: rs587784562
rs587784562
WNT5A
1 1.000 0.200 3 55474534 missense variant C/G snv 0.700 0
dbSNP: rs786204836
rs786204836
WNT5A
2 0.925 0.200 3 55479448 missense variant T/C snv 0.700 0