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: rs104893951
rs104893951
FOXC1
5 0.851 0.080 6 1610780 missense variant T/A;C snv 8.0E-06 0.800 1.000 20 1998 2017
dbSNP: rs104893953
rs104893953
FOXC1
1 1.000 0.080 6 1610690 missense variant G/C snv 4.0E-06 0.800 1.000 20 1998 2017
dbSNP: rs121909338
rs121909338
FOXC1
2 0.925 0.080 6 1610833 missense variant C/T snv 0.800 1.000 20 1998 2017
dbSNP: rs886039568
rs886039568
FOXC1
1 1.000 0.080 6 1610701 missense variant C/T snv 0.800 1.000 20 1998 2017
dbSNP: rs1085307884
rs1085307884
FOXC1
1 1.000 0.080 6 1610825 missense variant G/A;T snv 0.800 1.000 4 2001 2017
dbSNP: rs104893954
rs104893954
FOXC1
2 0.925 0.080 6 1610706 missense variant C/G snv 0.700 1.000 20 1998 2017
dbSNP: rs104893957
rs104893957
FOXC1
2 0.925 0.080 6 1610837 missense variant C/T snv 0.700 1.000 20 1998 2017
dbSNP: rs104893958
rs104893958
FOXC1
2 0.925 0.080 6 1610823 missense variant C/A;G;T snv 8.0E-06; 4.0E-06 0.700 1.000 20 1998 2017
dbSNP: rs121909339
rs121909339
FOXC1
1 1.000 0.080 6 1610803 stop gained C/T snv 0.700 1.000 5 2001 2011
dbSNP: rs1554101058
rs1554101058
FOXC1
1 1.000 0.080 6 1611587 frameshift variant CGG/GCGC delins 0.700 1.000 3 2001 2011
dbSNP: rs1057519475
rs1057519475
FOXC1
2 1.000 0.080 6 1610761 stop gained C/T snv 0.700 1.000 2 2015 2017
dbSNP: rs1241813534
rs1241813534
FOXC1
1 1.000 0.080 6 1611398 frameshift variant G/- delins 0.700 1.000 1 2002 2002
dbSNP: rs372857241
rs372857241
FOXC1
2 1.000 0.080 6 1610586 stop gained C/G;T snv 1.8E-05 0.700 1.000 1 2015 2015
dbSNP: rs104893952
rs104893952
FOXC1
2 0.925 0.080 6 1610512 stop gained C/G;T snv 1.7E-05 0.700 0
dbSNP: rs1057519471
rs1057519471
FOXC1
1 1.000 0.080 6 1610545 frameshift variant GGGGGCGGCT/- del 0.700 0
dbSNP: rs1057519472
rs1057519472
FOXC1
1 1.000 0.080 6 1610558 frameshift variant CCATGCCG/- delins 0.700 0
dbSNP: rs1057519477
rs1057519477
FOXC1
1 1.000 0.080 6 1610932 stop gained G/T snv 0.700 0
dbSNP: rs1057519478
rs1057519478
FOXC1
1 1.000 0.080 6 1611038 frameshift variant AGCCCCCGCCCGCGCCGCC/- delins 0.700 0
dbSNP: rs1057519479
rs1057519479
FOXC1
1 1.000 0.080 6 1611110 frameshift variant CATCCAGGACATCAAG/- delins 0.700 0
dbSNP: rs1057519480
rs1057519480
FOXC1
1 1.000 0.080 6 1611163 frameshift variant CT/- del 0.700 0
dbSNP: rs1057519481
rs1057519481
FOXC1
1 1.000 0.080 6 1611369 frameshift variant AGCGTGGACAACATCATGACGTCGC/- delins 0.700 0
dbSNP: rs1057519482
rs1057519482
FOXC1
1 1.000 0.080 6 1611710 stop gained C/A;T snv 1.5E-05 0.700 0
dbSNP: rs1183655796
rs1183655796
FOXC1
1 1.000 0.080 6 1610949 inframe insertion GCG/-;GCGGCG delins 0.700 0
dbSNP: rs1554100963
rs1554100963
FOXC1
2 0.925 0.080 6 1610852 inframe deletion GTC/- delins 0.700 0
dbSNP: rs368260972
rs368260972
FOXC1
1 1.000 0.080 6 1610637 stop gained C/G;T snv 4.0E-06 0.700 0