Gene: PRPS1 ×
Source: CLINVAR ×
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: rs1556297584
rs1556297584
PRPS1
1 X 107628675 missense variant C/T snv 0.700 0
dbSNP: rs1556300610
rs1556300610
PRPS1
1 X 107645232 missense variant C/T snv 0.700 0
dbSNP: rs1556300621
rs1556300621
PRPS1
2 X 107645286 missense variant C/T snv 0.700 0
dbSNP: rs867288458
rs867288458
PRPS1
2 X 107645287 missense variant G/A;C snv 0.700 0