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: rs371048362
rs371048362
FOXE3 ; LINC01389
1 1.000 0.040 1 47416584 missense variant G/A;T snv 8.6E-05 0.700 1.000 5 2001 2015
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs377669670
rs377669670
FOXE3 ; LINC01389
2 0.925 0.080 1 47416547 missense variant G/A snv 3.6E-05 6.4E-05 0.700 0
dbSNP: rs387906793
rs387906793
FOXE3 ; LINC01389
1 1.000 0.040 1 47417274 stop lost G/T snv 0.700 0
dbSNP: rs746531116
rs746531116
FOXE3 ; LINC01389
1 1.000 0.040 1 47416559 missense variant A/G snv 9.3E-05 5.0E-05 0.700 0
dbSNP: rs755377651
rs755377651
FOXE3 ; LINC01389
2 0.925 0.080 1 47416625 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1840680
rs1840680
PTX3 ; VEPH1
6 0.807 0.200 3 157438240 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018