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: rs267606985
rs267606985
PTHLH
3 1.000 12 27963693 missense variant A/G snv 0.800 1.000 1 2010 2010
dbSNP: rs267606986
rs267606986
PTHLH
1 1.000 12 27963741 missense variant A/G snv 0.800 1.000 1 2010 2010
dbSNP: rs267606987
rs267606987
PTHLH
1 1.000 12 27958559 stop lost T/C snv 0.700 0
dbSNP: rs267606988
rs267606988
PTHLH
1 1.000 12 27963514 stop gained T/A snv 0.700 0