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: rs730882234
rs730882234
PTRH2
4 0.925 17 59697725 missense variant T/G snv 0.800 0
dbSNP: rs786201017
rs786201017
PTRH2
1 1.000 17 59697709 frameshift variant AG/- del 0.700 0