Gene: HSPG2 ×
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: rs137853248
rs137853248
HSPG2
2 0.925 0.080 1 21864874 missense variant C/T snv 4.3E-06 0.020 1.000 2 2007 2008
dbSNP: rs1327754652
rs1327754652
HSPG2
1 1.000 0.080 1 21836802 missense variant C/T snv 5.9E-06 1.4E-05 0.010 1.000 1 2018 2018