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: rs201441120
rs201441120
ACD ; CARMIL2
2 1.000 16 67657847 missense variant G/T snv 5.2E-05 2.1E-05 0.800 1.000 1 2014 2014
dbSNP: rs797045144
rs797045144
PARD6A ; ACD
2 1.000 16 67659786 inframe deletion TCT/- delins 0.700 1.000 2 2014 2014