Gene: HPRT1 ×
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: rs387906428
rs387906428
HPRT1
1 1.000 0.120 X 134500063 stop lost AATACAAAGCCTAAGATGAGA/- delins 0.700 0
dbSNP: rs387906725
rs387906725
HPRT1
3 0.882 0.160 X 134475189 missense variant G/A snv 0.700 0
dbSNP: rs672601245
rs672601245
HPRT1
1 1.000 0.120 X 134500026 splice acceptor variant ATA/TTT mnv 0.700 0