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: rs387906667
rs387906667
PRRX1
1 1.000 0.080 1 170719822 missense variant T/C snv 0.800 1.000 1 2011 2011
dbSNP: rs398122375
rs398122375
PRRX1
1 1.000 0.080 1 170719747 frameshift variant A/-;AAAAA delins 0.700 0