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: rs587781261
rs587781261
PRPS1
3 0.925 0.160 X 107640932 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs180177151
rs180177151
PRPS1
1 1.000 0.160 X 107639365 missense variant G/A snv 0.700 0
dbSNP: rs180177152
rs180177152
PRPS1
1 1.000 0.160 X 107639431 missense variant G/A snv 0.700 0
dbSNP: rs180177153
rs180177153
PRPS1
1 1.000 0.160 X 107649944 missense variant T/C snv 0.700 0
dbSNP: rs180177154
rs180177154
PRPS1
1 1.000 0.160 X 107649991 missense variant G/A snv 0.700 0
dbSNP: rs869025593
rs869025593
PRPS1
2 0.925 0.200 X 107647731 missense variant A/C snv 0.700 0