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: rs1556026984
rs1556026984
HPRT1
4 0.925 0.120 X 134475194 missense variant G/C snv 0.700 1.000 15 1983 2014
dbSNP: rs267606863
rs267606863
HPRT1
1 1.000 0.120 X 134498655 missense variant G/A;C snv 0.800 1.000 15 1983 2014
dbSNP: rs1556030169
rs1556030169
HPRT1
2 0.925 0.160 X 134498683 frameshift variant -/T delins 0.700 1.000 3 2000 2017