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 0.800 1.000 1 2000 2000
dbSNP: rs886039909
rs886039909
HSPG2
6 0.882 0.120 1 21864095 splice region variant C/T snv 0.700 0
dbSNP: rs1312344491
rs1312344491
HSPG2
1 1.000 0.080 1 21937206 frameshift variant -/G ins 0.010 1.000 1 2016 2016
dbSNP: rs1366711545
rs1366711545
CD44
1 1.000 0.080 11 35219346 missense variant C/G snv 7.0E-06 0.010 1.000 1 2016 2016