Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518345
rs1057518345
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.700 0
dbSNP: rs1057518879
rs1057518879
0.776 0.280 1 11965571 stop gained G/A snv
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.700 0
dbSNP: rs80338945
rs80338945
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.700 0
dbSNP: rs1051266
rs1051266
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 < 0.001 1 2005 2005
dbSNP: rs1217691063
rs1217691063
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 1.000 1 2005 2005
dbSNP: rs1316694869
rs1316694869
0.925 0.160 22 30615698 missense variant A/G snv 4.0E-06
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 1.000 1 2012 2012
dbSNP: rs1801131
rs1801131
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 1.000 1 2012 2012
dbSNP: rs1801198
rs1801198
0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 < 0.001 1 2005 2005
dbSNP: rs2232775
rs2232775
1.000 0.080 19 8308268 missense variant T/C snv 8.3E-02 0.16
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 1.000 1 2012 2012
dbSNP: rs368087026
rs368087026
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 1.000 1 2005 2005
dbSNP: rs3733890
rs3733890
0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 1.000 1 2012 2012
dbSNP: rs781389750
rs781389750
1.000 0.080 22 30610913 missense variant A/G snv 4.0E-06
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
0.010 1.000 1 2012 2012