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: rs587776569
rs587776569
IRF6
1 1.000 0.200 1 209790667 protein altering variant GTCCAGCAGCTTGCTAGTG/T delins 0.700 0
dbSNP: rs770938921
rs770938921
GRHL3
1 1.000 0.200 1 24342712 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs781506407
rs781506407
IRF6
1 1.000 0.200 1 209790494 splice donor variant C/A;T snv 0.700 0