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: rs80338676
rs80338676
PRPS1
1 1.000 0.200 X 107642415 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs398122855
rs398122855
PRPS1
5 0.882 0.240 X 107642384 missense variant G/C snv 0.700 0
dbSNP: rs80338675
rs80338675
PRPS1
1 1.000 0.200 X 107640993 missense variant A/C snv 0.700 0
dbSNP: rs869025593
rs869025593
PRPS1
2 0.925 0.200 X 107647731 missense variant A/C snv 0.700 0