rs137852540, PRPS1

N. diseases: 3
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Phosphoribosylpyrophosphate Synthetase Superactivity
CUI: C1970827
Disease: Phosphoribosylpyrophosphate Synthetase Superactivity
6 0.925 0.080 X 107640936 missense variant A/G snv 0.800 1.000 1 1995 1995
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 0.925 0.080 X 107640936 missense variant A/G snv 0.700 1.000 12 1993 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.080 X 107640936 missense variant A/G snv 0.700 1.000 12 1993 2015