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: rs864309489
rs864309489
RIPPLY2
2 0.925 0.080 6 83857301 frameshift variant T/- del 0.700 1.000 2 2015 2015
dbSNP: rs1567750527
rs1567750527
MEOX1
1 1.000 0.080 17 43661441 frameshift variant C/- delins 0.700 0
dbSNP: rs713993044
rs713993044
MEOX1
1 1.000 0.080 17 43661285 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs772798486
rs772798486
MEOX1
1 1.000 0.080 17 43642011 stop gained G/A;T snv 4.0E-06; 8.0E-06 0.700 0