Gene: HPD ×
Source: CURATED ×
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: rs137852865
rs137852865
HPD
1 1.000 0.120 12 121849726 missense variant T/C snv 3.2E-05 7.0E-06 0.800 1.000 2 2000 2000
dbSNP: rs137852866
rs137852866
HPD
1 1.000 0.120 12 121846919 stop gained A/C snv 0.700 0
dbSNP: rs137852867
rs137852867
HPD
1 1.000 0.120 12 121847211 stop gained G/C snv 4.0E-06 0.700 0
dbSNP: rs367674632
rs367674632
HPD ; LOC105370035
2 0.925 0.120 12 121857775 stop gained C/G;T snv 5.2E-05 1.4E-05 0.700 0
dbSNP: rs775747384
rs775747384
HPD ; LOC105370035
2 0.925 0.120 12 121857807 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0