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: rs121909352
rs121909352
GDF6
3 0.882 0.120 8 96145185 missense variant G/T snv 2.0E-03 2.0E-03 0.800 1.000 2 2008 2009
dbSNP: rs121909354
rs121909354
GDF6
1 1.000 0.080 8 96160568 missense variant C/A;G snv 2.3E-04; 2.8E-05 0.800 1.000 2 2008 2009
dbSNP: rs63751220
rs63751220
GDF6
3 0.882 0.120 8 96145065 missense variant A/G snv 6.4E-05 8.8E-04 0.710 1.000 1 2008 2008
dbSNP: rs121909353
rs121909353
GDF6
1 1.000 0.080 8 96144660 missense variant T/C snv 2.1E-04 2.8E-05 0.700 1.000 2 2008 2009
dbSNP: rs1266420848
rs1266420848
MYO18B
1 1.000 0.080 22 26026616 frameshift variant -/AAGTCCACAGA delins 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs572104436
rs572104436
MYO18B
1 1.000 0.080 22 26026634 missense variant A/T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs756408696
rs756408696
MYO18B
2 0.925 0.080 22 26026633 frameshift variant ATTAGAACCTG/- delins 4.4E-05 2.1E-05 0.010 1.000 1 2019 2019