STAB2, stabilin 2, 55576

N. diseases: 22; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4981022
rs4981022
12 103756096 intron variant G/A snv 0.69
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
0.700 1.000 3 2010 2019
dbSNP: rs1070073
rs1070073
12 103606541 intron variant T/G snv 0.71
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
0.700 1.000 1 2019 2019
dbSNP: rs11111679
rs11111679
12 103613640 intron variant G/A snv 5.5E-02
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
0.700 1.000 1 2019 2019
dbSNP: rs73192004
rs73192004
12 103733575 intron variant G/A snv 3.9E-02
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
0.700 1.000 1 2019 2019